(used for variant description)
(last modified December 25, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_022167.2 in the XYLT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012175.1, covering XYLT2 transcript NM_022167.2.
(upstream sequence)
. . . . g.5049
cccgcctccctaggcgtggaggagggggggcggctcagccccgcgcccg c.-61
. . . . . . g.5109
tgcgcgcgctcgcggccgggttgcagggctgggcgcgcgccccgcgtcccgggcaggaag c.-1
. . . . . . g.5169
ATGGTGGCGAGCGCGCGAGTGCAGAAGCTGGTGCGGCGCTACAAGCTGGCGATTGCCACG c.60
M V A S A R V Q K L V R R Y K L A I A T p.20
. . . . . . g.5229
GCGCTGGCCATCCTGCTGCTGCAGGGCCTGGTAGTGTGGAGCTTCAGCGGCCTGGAGGAG c.120
A L A I L L L Q G L V V W S F S G L E E p.40
. | 02 . . . . . g.12643
GACGAGGCGGGCGAG | AAAGGAAGGCAGAGGAAGCCACGGCCACTGGACCCTGGCGAGGGT c.180
D E A G E | K G R Q R K P R P L D P G E G p.60
. . . . . . g.12703
TCCAAGGACACAGACAGTTCAGCAGGGCGACGGGGCAGCACAGGCAGAAGGCATGGGCGC c.240
S K D T D S S A G R R G S T G R R H G R p.80
. . . . . . g.12763
TGGCGGGGCCGTGCTGAGAGCCCAGGAGTGCCCGTGGCCAAGGTGGTACGGGCAGTAACC c.300
W R G R A E S P G V P V A K V V R A V T p.100
. . . . . . g.12823
AGCCGGCAGAGAGCCAGCCGGCGGGTCCCACCTGCCCCACCCCCGGAAGCCCCAGGCCGC c.360
S R Q R A S R R V P P A P P P E A P G R p.120
. . . . . . g.12883
CAGAACCTGAGTGGGGCAGCAGCTGGGGAGGCGCTGGTAGGGGCAGCTGGCTTCCCACCA c.420
Q N L S G A A A G E A L V G A A G F P P p.140
. . . . . . g.12943
CACGGAGATACAGGGAGCGTGGAGGGCGCCCCCCAGCCCACGGACAATGGCTTCACCCCC c.480
H G D T G S V E G A P Q P T D N G F T P p.160
. . . . . . g.13003
AAGTGCGAGATCGTGGGCAAGGACGCACTGTCTGCACTGGCCCGGGCCAGCACCAAGCAG c.540
K C E I V G K D A L S A L A R A S T K Q p.180
. . . . . . g.13063
TGCCAGCAGGAGATCGCCAATGTGGTGTGCCTGCACCAGGCTGGGAGCCTCATGCCCAAG c.600
C Q Q E I A N V V C L H Q A G S L M P K p.200
. . | 03 . . . g.13408
GCTGTGCCCCGGCACTGTCAGCTGACTG | GGAAGATGAGCCCCGGCATCCAGTGGGATGAG c.660
A V P R H C Q L T G | K M S P G I Q W D E p.220
. . . . . . g.13468
AGCCAAGCCCAGCAGCCCATGGATGGCCCCCCGGTGCGAATCGCCTACATGCTGGTGGTT c.720
S Q A Q Q P M D G P P V R I A Y M L V V p.240
. . . . . . g.13528
CACGGCCGCGCCATCCGCCAGCTGAAGCGTCTCCTCAAGGCCGTTTATCACGAGCAGCAC c.780
H G R A I R Q L K R L L K A V Y H E Q H p.260
. . | 04 . . . . g.13858
TTCTTTTACATCCATGTGGACAAG | CGTTCCGACTACCTGCACCGGGAGGTGGTGGAGCTG c.840
F F Y I H V D K | R S D Y L H R E V V E L p.280
. . . . . . g.13918
GCCCAGGGCTATGATAACGTGCGGGTGACGCCCTGGCGCATGGTTACCATCTGGGGCGGG c.900
A Q G Y D N V R V T P W R M V T I W G G p.300
. . . . . . g.13978
GCCAGCCTCCTGAGGATGTACCTGCGGAGCATGCGGGACCTGCTAGAGGTGCCTGGCTGG c.960
A S L L R M Y L R S M R D L L E V P G W p.320
. . . . | 05. . g.14482
GCCTGGGACTTCTTCATCAACCTCAGTGCCACTGACTATCCAACCAG | GACCAATGAGGAG c.1020
A W D F F I N L S A T D Y P T R | T N E E p.340
. . . . . . g.14542
CTGGTGGCATTCCTATCCAAGAACCGGGACAAGAATTTCCTCAAGTCACATGGCCGGGAC c.1080
L V A F L S K N R D K N F L K S H G R D p.360
| 06 . . . . . g.14801
AACTCCAG | GTTCATCAAGAAACAGGGCCTGGACCGGCTCTTCCATGAGTGCGACTCACAC c.1140
N S R | F I K K Q G L D R L F H E C D S H p.380
. . . . . . g.14861
ATGTGGCGCCTGGGCGAGCGGCAGATCCCAGCAGGCATTGTGGTGGATGGCGGTTCTGAC c.1200
M W R L G E R Q I P A G I V V D G G S D p.400
. . . . . . g.14921
TGGTTCGTGCTGACACGCAGCTTTGTGGAGTATGTGGTGTACACAGATGACCCGCTTGTG c.1260
W F V L T R S F V E Y V V Y T D D P L V p.420
. . . . | 07 . . g.15068
GCCCAGCTGCGCCAGTTCTACACATACACACTGCTCCCAGCCGAG | TCCTTCTTCCACACG c.1320
A Q L R Q F Y T Y T L L P A E | S F F H T p.440
. . . . . . g.15128
GTGCTGGAGAACAGCCTGGCCTGTGAGACCCTCGTGGACAACAACCTGCGGGTCACCAAC c.1380
V L E N S L A C E T L V D N N L R V T N p.460
. . . . . . g.15188
TGGAACCGCAAGCTGGGCTGCAAGTGCCAGTACAAGCACATTGTGGACTGGTGTGGCTGC c.1440
W N R K L G C K C Q Y K H I V D W C G C p.480
. . . . | 08 . . g.15497
TCCCCCAACGACTTCAAGCCACAGGACTTCCTCCGGCTGCAG | CAAGTCTCCAGACCCACC c.1500
S P N D F K P Q D F L R L Q | Q V S R P T p.500
. . . . . . g.15557
TTCTTCGCCCGGAAGTTCGAGTCGACTGTGAACCAGGAGGTGCTGGAAATCCTGGACTTC c.1560
F F A R K F E S T V N Q E V L E I L D F p.520
. . . . . . g.15617
CACCTGTATGGCAGCTACCCCCCCGGCACGCCAGCCCTCAAGGCCTACTGGGAGAACACC c.1620
H L Y G S Y P P G T P A L K A Y W E N T p.540
. . . . . . g.15677
TACGACGCGGCTGATGGCCCCAGTGGGCTCAGTGATGTCATGCTCACTGCTTACACAGCC c.1680
Y D A A D G P S G L S D V M L T A Y T A p.560
. . . . . . g.15737
TTCGCCCGCCTCAGCCTGCACCATGCCGCCACTGCTGCACCCCCAATGGGCACCCCACTC c.1740
F A R L S L H H A A T A A P P M G T P L p.580
| 09 . . . . . . g.16080
TGCAG | GTTTGAGCCCAGGGGCTTGCCGTCCAGCGTGCACCTGTATTTCTATGACGACCAT c.1800
C R | F E P R G L P S S V H L Y F Y D D H p.600
. . . . . . g.16140
TTCCAGGGCTACCTGGTGACGCAGGCGGTGCAGCCCTCAGCCCAGGGGCCGGCAGAGACG c.1860
F Q G Y L V T Q A V Q P S A Q G P A E T p.620
. . . . . . g.16200
CTTGAGATGTGGCTGATGCCCCAAGGGTCGCTGAAGCTGTTGGGGCGCAGTGACCAGGCC c.1920
L E M W L M P Q G S L K L L G R S D Q A p.640
. . | 10 . . . . g.17214
AGCCGGCTCCAGAGTCTGGAG | GTTGGCACTGATTGGGACCCCAAAGAGCGTCTTTTCCGG c.1980
S R L Q S L E | V G T D W D P K E R L F R p.660
. . . . . . g.17274
AACTTTGGGGGGTTACTGGGGCCGCTGGACGAGCCTGTGGCCGTGCAGCGCTGGGCCCGG c.2040
N F G G L L G P L D E P V A V Q R W A R p.680
. . . . . . g.17334
GGCCCCAACCTCACAGCCACAGTGGTCTGGATCGACCCAACCTATGTGGTGGCCACATCT c.2100
G P N L T A T V V W I D P T Y V V A T S p.700
. . . . . . g.17394
TATGACATCACAGTAGATACGGAGACTGAGGTCACGCAATACAAGCCCCCACTGAGCCGG c.2160
Y D I T V D T E T E V T Q Y K P P L S R p.720
. . . . . . g.17454
CCCCTGCGGCCAGGGCCCTGGACTGTTCGACTCCTTCAGTTCTGGGAACCGCTGGGTGAG c.2220
P L R P G P W T V R L L Q F W E P L G E p.740
. . . . . | 11 . g.18942
ACCCGCTTCCTTGTGCTGCCCTTGACCTTCAACCGCAAACTACCTCTCAGGAAAG | ATGAT c.2280
T R F L V L P L T F N R K L P L R K D | D p.760
. . . . . . g.19002
GCCAGCTGGCTGCACGCAGGGCCACCCCACAACGAGTACATGGAGCAGAGTTTCCAGGGC c.2340
A S W L H A G P P H N E Y M E Q S F Q G p.780
. . . . . . g.19062
CTGAGTAGCATCCTGAACCTGCCTCAGCCGGAGCTCGCGGAGGAGGCTGCCCAGCGGCAC c.2400
L S S I L N L P Q P E L A E E A A Q R H p.800
. . . . . . g.19122
ACACAGCTCACAGGCCCTGCGCTCGAGGCCTGGACAGACAGGGAACTGAGCAGCTTCTGG c.2460
T Q L T G P A L E A W T D R E L S S F W p.820
. . . . . . g.19182
TCCGTGGCTGGACTGTGTGCCATAGGCCCCTCTCCCTGCCCCTCCCTGGAGCCCTGCAGA c.2520
S V A G L C A I G P S P C P S L E P C R p.840
. . . . . . g.19242
CTGACCAGCTGGAGCTCTCTGTCCCCCGACCCCAAATCAGAGCTGGGGCCTGTCAAAGCA c.2580
L T S W S S L S P D P K S E L G P V K A p.860
. g.19260
GACGGGCGACTCAGGTAG c.2598
D G R L R X p.865
. . . . . . g.19320
cagggccccagccagtacccgtggaggacccgggaaattgcaccttacagacagtggagg c.*60
. . . . . . g.19380
ggtgtcccctcccacaggcaagaaccagaggcccaggctgcacacccatttcagccatca c.*120
. . . . . . g.19440
agaacccacacagacggcagggaaggtggacacagtatgaactactgctgatgtctctgt c.*180
. . . . . . g.19500
tggggatcagagggctggcgggaacgcgagaagggcaccagcagcattccacacccagct c.*240
. . . . . . g.19560
cttcctcaccttcctgtctagtttgaatttcttttttttcttttttttttttttttttta c.*300
. . . . . . g.19620
atttaaaaaggaaaatgggtggttgggagagaaactagaacagaagatgtgcaatagggc c.*360
. . . . . . g.19680
tcagagcagccccaggaagtgggccatgtctgtggggagcaggggcttgctgagcccacc c.*420
. . . . . . g.19740
tgctattgttctgcacgaggctgggcctgcctcactctccagggcctcatgccccattct c.*480
. . . . . . g.19800
gggcctgtggtgctcgtggctgaggctccacagggctgcaagtgccctgccaggctctaa c.*540
. . . . . . g.19860
ggcccgaagaacaggtgatatcgggggcgctgcagagctgggctctagcaggacagttct c.*600
. . . . . . g.19920
tttgtagccaggggaccctagaagtggggtggggcggctccagggctttccagcataccc c.*660
. . . . . . g.19980
tgcccctggatgggaaaggcagggtcagggcccactgagacccatgcagagtttccaggt c.*720
. . . . . . g.20040
gtgcactggaagtgaggtcacatgagcagcgtgggaagaagactctgtcaagactctcag c.*780
. . . . . . g.20100
aagaacctggagtaattgtgcctgaagctcagcgtgaagtctgaaatatgcaacagaaga c.*840
. . g.20120
aatatatctctatctctcta c.*860
(downstream sequence)
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