(used for variant description)
(last modified November 8, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_007175.6 in the ERLIN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering ERLIN2 transcript NM_007175.6.
(upstream sequence)
. . . . . g.5055
atcgaagcgacggcccggaaggaagtcgcgtgctgaggggtgtgacggttttctt c.-61
. . . . . | 02 . g.6344
gctcgtgggctcggacgagtacggagcgcctgcagggacagcctg | gataaaggctcactg c.-1
. . . . . . g.6404
ATGGCTCAGTTGGGAGCAGTTGTGGCTGTGGCTTCCAGTTTCTTTTGTGCATCTCTCTTC c.60
M A Q L G A V V A V A S S F F C A S L F p.20
. . . . | 03. . g.8799
TCAGCTGTGCACAAGATAGAAGAGGGACATATTGGGGTATATTACAG | AGGCGGTGCCCTG c.120
S A V H K I E E G H I G V Y Y R | G G A L p.40
. . . . . . g.8859
CTGACTTCGACCAGCGGCCCTGGTTTCCATCTCATGCTCCCTTTCATCACATCATATAAG c.180
L T S T S G P G F H L M L P F I T S Y K p.60
| 04 . . . . | 05 . g.12780
TCTGTGCAG | ACCACACTCCAGACAGATGAGGTGAAGAATGTACCTTGTGGGACTAG | TGGT c.240
S V Q | T T L Q T D E V K N V P C G T S | G p.80
. . . . . | 06 g.12994
GGTGTGATGATCTACTTTGACAGAATTGAAGTGGTGAACTTCCTGGTCCCGAACGCAG | TG c.300
G V M I Y F D R I E V V N F L V P N A V | p.100
. . . . . . g.13054
TATGATATAGTGAAGAACTATACTGCTGACTATGACAAGGCCCTCATCTTCAACAAGATC c.360
Y D I V K N Y T A D Y D K A L I F N K I p.120
. . . . . . g.13114
CACCACGAACTGAACCAGTTCTGCAGTGTGCACACGCTTCAAGAGGTCTACATTGAGCTG c.420
H H E L N Q F C S V H T L Q E V Y I E L p.140
| 07 . . . . . . g.18036
TTTG | ATCAGATTGATGAAAATCTCAAACTGGCTTTGCAACAGGACCTGACCTCCATGGCC c.480
F D | Q I D E N L K L A L Q Q D L T S M A p.160
. | 08 . . . . g.18257
CCTGGGCTGGTCATTCAA | GCTGTGCGGGTAACAAAGCCCAACATACCAGAGGCAATCCGC c.540
P G L V I Q | A V R V T K P N I P E A I R p.180
. | 09. . . . . g.18859
AGAAACTACGAGTTGAT | GGAAAGTGAGAAGACAAAGCTTCTCATTGCCGCCCAGAAACAG c.600
R N Y E L M | E S E K T K L L I A A Q K Q p.200
. . . . | 10 . g.20058
AAGGTGGTGGAAAAGGAAGCAGAGACAGAGCGGAAGAAGGCGCTCATTG | AGGCAGAAAAA c.660
K V V E K E A E T E R K K A L I E | A E K p.220
. . . . . . g.20118
GTGGCCCAGGTGGCTGAGATCACCTACGGGCAGAAGGTGATGGAGAAGGAGACTGAGAAG c.720
V A Q V A E I T Y G Q K V M E K E T E K p.240
. | 11 . . . . g.21912
AAGATTTCAGAAATTGAAG | ATGCTGCATTTCTGGCCCGGGAGAAGGCAAAGGCAGATGCT c.780
K I S E I E D | A A F L A R E K A K A D A p.260
. . . | 12 . . g.22357
GAGTGCTACACTGCTATGAAAATAGCCGAAGCCAATAAG | CTGAAGCTAACCCCTGAATAT c.840
E C Y T A M K I A E A N K | L K L T P E Y p.280
. . . . . . g.22417
CTGCAGCTGATGAAGTACAAGGCCATTGCTTCCAACAGCAAGATTTACTTTGGCAAAGAC c.900
L Q L M K Y K A I A S N S K I Y F G K D p.300
. . . . . . g.22477
ATTCCTAACATGTTCATGGACTCTGCGGGCAGTGTGAGCAAGCAGTTTGAGGGGCTAGCT c.960
I P N M F M D S A G S V S K Q F E G L A p.320
. . . . . . g.22537
GACAAGCTAAGCTTTGGCTTAGAAGATGAACCCTTGGAGACGGCCACTAAGGAGAATTGA c.1020
D K L S F G L E D E P L E T A T K E N X p.339
. . . . . . g.22597
aaaaaacttgatatgactgcaaatgatacttaagcagatctttattttttaagatgaatc c.*60
. . . . . . g.22657
agaatgttcctccctccccgactaccttctctgactgtcttccagttactgtggtgaaaa c.*120
. . . . . . g.22717
agaagaaatgaacttaaatccactccctttctagggaaaggagggtggggactgatgatg c.*180
. . . . . . g.22777
gggggttttatttcaggtaagcagtttatatgacttccaataagatttgtaaatcatggg c.*240
. . . . . . g.22837
cttgacctttgacctctagacactaattttatcctttgaggctggcttaattagggatgc c.*300
. . . . . . g.22897
tgtcattaaggagagggagaaatgtagagtgttacctccaactcatttgatttcccttac c.*360
. . . . . . g.22957
ttgggaaaatgcagtccagtgttctcacctctgcctccaaggtaggagatgtctgtgggt c.*420
. . . . . . g.23017
gaggctcagcaactgagcaaatatgtgcctgtgagtttgccagtagagctgtgaagaaac c.*480
. . . . . . g.23077
agctgcagagaacatttgaccttcctggcattcttgtctgcatgtgtgtgagttatttta c.*540
. . . . . . g.23137
gaggtgtgctttcttgagccctcataaggaagtactggtgctaggttttgcaagattttg c.*600
. . . . . . g.23197
tatacactttgctccttgccctagggctcagagtggtggtttctgactacatttctagag c.*660
. . . . . . g.23257
tcagagcttgatcaccacaactcaattatttcggcatcttttcacctatgctgtgatttg c.*720
. . . . . . g.23317
ttttttttttttcttctcaaaaattctgttcattggttccactcagcatcaagaagacag c.*780
. . . . . . g.23377
ggacaaacaactcaagtgtcttaacagctgctggagtgggatccttgttatctcttagcc c.*840
. . . . . . g.23437
actgcaggacctgcctgacaggttatgtgtgcacctcgagatgaagtgtctttctattat c.*900
. . . . . . g.23497
tgtagagattctgtagtgaagaggtctgacaccatgtgtggaggaggaggaacgatcagt c.*960
. . . . . . g.23557
caagagatgtcctggtcttaatgcctgtggcttgtgctgggagtgggtctgacttagtga c.*1020
. . . . . . g.23617
taaaaggactctattcactaagtagcctgtgtttttaaatccagggctgcaggcagcaac c.*1080
. . . . . . g.23677
gcaagtcaggctgaacattcagtctccagagacagctgtgtggagcaaatcagagttcat c.*1140
. . . . . . g.23737
gcccaagtccccaggttggaatggctgtgccaaaatccattcaaagggttttctttttca c.*1200
. . . . . . g.23797
ttactaggtcagaacattttgagtcaccttgggagattcaggatggggagagcaaatttg c.*1260
. . . . . . g.23857
aacaaaaggtttttcttatatcctgagattgaggggtagggggtgtccaacctgtatagc c.*1320
. . . . . . g.23917
ccatgggttgtgtctagaattaagtggagggcagctatctggagttaacttgcaagcata c.*1380
. . . . . . g.23977
ttggtgccctccatgaccacctctggcttaggacttggccctgttatgagctgaccccca c.*1440
. . . . . . g.24037
ccccccaccccccaccccccccccccgccaactcctatacccatcttccctaggtgaatc c.*1500
. . . . . . g.24097
tgtgaatggtcctttctggcagcaatccctgccttctttttgggcccatgcccagacttc c.*1560
. . . . . . g.24157
tggtttaaggaatggtcccagagcttgggccagcttgctcagaagttttgggagcattga c.*1620
. . . . . . g.24217
gcctgcctagaaagatacagtgttagctccccttacttcaaagttgcccttctctgttct c.*1680
. . . . . . g.24277
gactcctgggacttctggtcctgggcacactttttgcaggcaacaaaatgtgcctgggag c.*1740
. . . . . . g.24337
tgatggattttaatgtgctccagagtcctttcagaaggtggtcatttcccttggccgggc c.*1800
. . . . . . g.24397
gcggtggctcacacctgtaatcccagcactttgggaggccaaggcaggcggatcacctga c.*1860
. . . . . . g.24457
ggttaggagttcgagaccaccctggccaacatgcgaaaccccatctctacgaaaaataga c.*1920
. . . . . . g.24517
aatattagccgggcatggtgtcaggcacctgtaatcccagctacttgggaggctgaggca c.*1980
. . . . . . g.24577
ggagaattgcttgaactcgggaggcagaggttgcagtgagccaagatcatgccatcccac c.*2040
. . . . . . g.24637
tctagcttgggcaatagagcaaggctccgtctcaagaaaagaaggtcatttcccaagact c.*2100
. . . . . . g.24697
agcatagggagtatccatttaaaatacattcatcttcctcccatttccgtgctattaatc c.*2160
. . . . . . g.24757
acttgttagagcaacatgacatgcccagcatcccacttcccgaaaatgtctactccttct c.*2220
. . . . . . g.24817
actctgagctcttgttgcctagacctcagaaaacaccaattcaccacagtagaaccggga c.*2280
. . . . . . g.24877
gcagggatagctcagcttctctgaatagcacactttgctcaggtcttaacttgagggcct c.*2340
. . . . . . g.24937
ctccggtactaacatcctgcgatagcttgtcccatgagcacagaagagcctcagtagagt c.*2400
. . . . . . g.24997
caagtcctgctgcagctgccccaccccaagtttctatcatttcctctttaaacaaaaaat c.*2460
. . . . . . g.25057
atgttatcctacacattagtgtcaatccaatggttgtctcttatctgtctaaatagcaaa c.*2520
. . . . . . g.25117
atcatgaaaatcagctgttttatttgcataggacaactaacctgtctgtgtaactttgtt c.*2580
. . . . . . g.25177
tttattttaactcttactagaaaatctaatcttaaaacatttgaattctaaacatgtaaa c.*2640
. . . . . . g.25237
atgtgacagcctgcaattttgtagacagtgaagtaatggctgctatttataaatggaaca c.*2700
. . . . . . g.25297
tctatcaaaataagtaactgtttataaaattcagtttttgtagggttttccaaggaaaaa c.*2760
. . . . . . g.25357
tcaccttggttgaatgtttctcactcattaaactttgcagaagtgattcatattcagtac c.*2820
. . . . . . g.25417
tgtttttaatcactttttaaaatataaggaccgaatgcaaggaaaccaaagtttattaat c.*2880
. . . . . . g.25477
aatttttatataactaaaataaaatagatgtggagggatctgtgatcatataaaaaggga c.*2940
. . . . . . g.25537
gggttactgaaagaattttagcaatatattgattcaggaaaaggagctgttttataaatg c.*3000
. . . . . . g.25597
atcattcactgttcctatggttctatgtatctttcaaaccgatacctttactatttaaag c.*3060
. . . . . . g.25657
agcgtaaatagtgaaagtaagatggtcatacttactgactttatctatttaagtttgatg c.*3120
. . . . . . g.25717
gagataaactatatcttggctagtggctactgtgtctgtgaatgtaaccagtacttcttt c.*3180
. . . . . . g.25777
aagctctattcagtagggttccagccactgcttttttgttgtttctagccactgtttttt c.*3240
. . . . . . g.25837
ttttcttgtttccttataaaacaggtaataaccaatcattttgtgtttgtatttccattc c.*3300
. . . . . . g.25897
ctttttatttctgcctttgtgtagactgatgattaagtaggcaaactacttctactttca c.*3360
. . . . . . g.25957
aagagccccaagggcttaatgaccccatttgtaactgagaaatgattcttgttttagtaa c.*3420
. . . . . . g.26017
tcattctataaatgatactgctggattgattgccgtgggttgatagctggaggaattgtt c.*3480
. . . . . . g.26077
ttggacaatactaacatgtgaatttatgtcttagttttatttgcagtcttgctaagtaaa c.*3540
. . . . . . g.26137
atgagtctttgtatctacttttttattaaagtgaaatttagcaatagttaatattaggtg c.*3600
. . . . . . g.26197
acataaataaaacatcccagactagtgagttaagtacaagatctctctaaaaataaacag c.*3660
. . g.26223
atgaaaatctatccccattatcgata c.*3686
(downstream sequence)
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