(used for variant description)
(last modified June 16, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000032.4 in the ALAS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008983.1, covering ALAS2 transcript NM_000032.4.
(upstream sequence)
. g.5018
aatgcagggccaggccgg c.-121
. . . . . . g.5078
cagaaggcagggtgggtggggctgagtcagaggagaagggataaatgccaggtcctaacc c.-61
. . . . . | 02 . g.10064
caagtacccacctgtcattcgttcgtcctcagtgcagggcaacag | gactttaggttcaag c.-1
. . . . . . g.10124
ATGGTGACTGCAGCCATGCTGCTACAGTGCTGCCCAGTGCTTGCCCGGGGCCCCACAAGC c.60
M V T A A M L L Q C C P V L A R G P T S p.20
. . . . . . g.10184
CTCCTAGGCAAGGTGGTTAAGACTCACCAGTTCCTGTTTGGTATTGGACGCTGTCCCATC c.120
L L G K V V K T H Q F L F G I G R C P I p.40
. . . . . . g.10244
CTGGCTACCCAAGGACCAAACTGTTCTCAAATCCACCTTAAGGCAACAAAGGCTGGAGGA c.180
L A T Q G P N C S Q I H L K A T K A G G p.60
| 03 . . . . . . g.11283
G | ATTCTCCATCTTGGGCGAAGGGCCACTGTCCCTTCATGCTGTCGGAACTCCAGGATGGG c.240
D | S P S W A K G H C P F M L S E L Q D G p.80
. . . . . . g.11343
AAGAGCAAGATTGTGCAGAAGGCAGCCCCAGAAGTCCAGGAAGATGTGAAGGCTTTCAAG c.300
K S K I V Q K A A P E V Q E D V K A F K p.100
| 04 . . . . . . g.12253
ACAG | ATCTGCCTAGCTCCCTGGTCTCAGTCAGCCTAAGGAAGCCATTTTCCGGTCCCCAG c.360
T D | L P S S L V S V S L R K P F S G P Q p.120
. . . . . | 05 . g.14795
GAGCAGGAGCAGATCTCTGGGAAGGTCACACACCTGATTCAGAACAATATGCCTG | GAAAC c.420
E Q E Q I S G K V T H L I Q N N M P G | N p.140
. . . . . . g.14855
TATGTCTTCAGTTATGACCAGTTTTTCAGGGACAAGATCATGGAGAAGAAACAGGATCAC c.480
Y V F S Y D Q F F R D K I M E K K Q D H p.160
. . . . . . g.14915
ACCTACCGTGTGTTCAAGACTGTGAACCGCTGGGCTGATGCATATCCCTTTGCCCAACAT c.540
T Y R V F K T V N R W A D A Y P F A Q H p.180
. . . . . . g.14975
TTCTCTGAGGCATCTGTGGCCTCAAAGGATGTGTCCGTCTGGTGTAGTAATGATTACCTG c.600
F S E A S V A S K D V S V W C S N D Y L p.200
. . . | 06 . . g.15582
GGCATGAGCCGACACCCTCAGGTCTTGCAAGCCACACA | GGAGACCCTGCAGCGTCATGGT c.660
G M S R H P Q V L Q A T Q | E T L Q R H G p.220
. . . . . . g.15642
GCTGGAGCTGGTGGCACCCGCAACATCTCAGGCACCAGTAAGTTTCATGTGGAGCTTGAG c.720
A G A G G T R N I S G T S K F H V E L E p.240
. . . . . . g.15702
CAGGAGCTGGCTGAGCTGCACCAGAAGGACTCAGCCCTGCTCTTCTCCTCCTGCTTTGTT c.780
Q E L A E L H Q K D S A L L F S S C F V p.260
. . . . | 07 . . g.18416
GCCAATGACTCTACTCTCTTCACCTTGGCCAAGATCCTGCCAG | GGTGCGAGATTTACTCA c.840
A N D S T L F T L A K I L P G | C E I Y S p.280
. . . . . . g.18476
GACGCAGGCAACCATGCTTCCATGATCCAAGGTATCCGTAACAGTGGAGCAGCCAAGTTT c.900
D A G N H A S M I Q G I R N S G A A K F p.300
. . . . . . g.18536
GTCTTCAGGCACAATGACCCTGACCACCTAAAGAAACTTCTAGAGAAGTCTAACCCTAAG c.960
V F R H N D P D H L K K L L E K S N P K p.320
. . . . | 08 . . g.20339
ATACCCAAAATTGTGGCCTTTGAGACTGTCCACTCCATGGATG | GTGCCATCTGTCCCCTC c.1020
I P K I V A F E T V H S M D G | A I C P L p.340
. . . . . . g.20399
GAGGAGTTGTGTGATGTGTCCCACCAGTATGGGGCCCTGACCTTCGTGGATGAGGTCCAT c.1080
E E L C D V S H Q Y G A L T F V D E V H p.360
. . . . . . g.20459
GCTGTAGGACTGTATGGGTCCCGGGGCGCTGGGATTGGGGAGCGTGATGGAATTATGCAT c.1140
A V G L Y G S R G A G I G E R D G I M H p.380
. . | 09 . . . g.21081
AAGATTGACATCATCTCTGGAACTCTTG | GCAAGGCCTTTGGCTGTGTGGGCGGCTACATT c.1200
K I D I I S G T L G | K A F G C V G G Y I p.400
. . . . . . g.21141
GCCAGCACCCGTGACTTGGTGGACATGGTGCGCTCCTATGCTGCAGGCTTCATCTTTACC c.1260
A S T R D L V D M V R S Y A A G F I F T p.420
. . . . . . g.21201
ACTTCTCTGCCCCCCATGGTGCTCTCTGGAGCTCTAGAATCTGTGCGGCTGCTCAAGGGA c.1320
T S L P P M V L S G A L E S V R L L K G p.440
. . . . . . g.21261
GAGGAGGGCCAAGCCCTGAGGCGAGCCCACCAGCGCAATGTCAAGCACATGCGCCAGCTA c.1380
E E G Q A L R R A H Q R N V K H M R Q L p.460
. . . . . | 10. g.22419
CTCATGGACAGGGGCCTTCCTGTCATCCCCTGCCCCAGCCACATCATCCCCATCCGG | GTG c.1440
L M D R G L P V I P C P S H I I P I R | V p.480
. . . . . . g.22479
GGCAATGCAGCACTCAACAGCAAGCTCTGTGATCTCCTGCTCTCCAAGCATGGCATCTAT c.1500
G N A A L N S K L C D L L L S K H G I Y p.500
. . . . . . g.22539
GTGCAGGCCATCAACTACCCAACTGTCCCCCGGGGTGAAGAGCTCCTGCGCTTGGCACCC c.1560
V Q A I N Y P T V P R G E E L L R L A P p.520
. . . . | 11 . . g.26741
TCCCCCCACCACAGCCCTCAGATGATGGAAGATTTTGTGG | AGAAGCTGCTGCTGGCTTGG c.1620
S P H H S P Q M M E D F V E | K L L L A W p.540
. . . . . . g.26801
ACTGCGGTGGGGCTGCCCCTCCAGGATGTGTCTGTGGCTGCCTGCAATTTCTGTCGCCGT c.1680
T A V G L P L Q D V S V A A C N F C R R p.560
. . . . . . g.26861
CCTGTACACTTTGAGCTCATGAGTGAGTGGGAACGTTCCTACTTCGGGAACATGGGGCCC c.1740
P V H F E L M S E W E R S Y F G N M G P p.580
. . g.26885
CAGTATGTCACCACCTATGCCTGA c.1764
Q Y V T T Y A X p.587
. . . . . . g.26945
gaagccagctgcctaggattcacaccccacctgcgcttcacttgggtccaggcctactcc c.*60
. . . . . . g.27005
tgtcttctgctttgttgtgtgcctctagctgaattgagcctaaaaataaagcacaaacca c.*120
g.27010
cagca c.*125
(downstream sequence)
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