(used for variant description)
(last modified January 1, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_182895.2 in the SCARF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering SCARF2 transcript NM_182895.2.
(upstream sequence)
. . . . g.5045
ggcgcccctcctgccgccccccgcccggcctcgcactccgcttcc c.-61
. . . . . . g.5105
ggccgctctcgctgcggccgcacccgcgcccgtgcccgccccgcgcctgccccgcgcctc c.-1
. . . . . . g.5165
ATGGAGGGCGCAGGGCCCCGGGGGGCCGGGCCGGCGCGGCGCCGGGGAGCCGGGGGGCCG c.60
M E G A G P R G A G P A R R R G A G G P p.20
. . . . . . g.5225
CCGTCACCGCTGCTGCCGTCGCTGCTGCTGCTGCTGCTGCTCTGGATGCTGCCGGACACC c.120
P S P L L P S L L L L L L L W M L P D T p.40
. . . . . | 02 . g.10878
GTGGCGCCTCAGGAACTGAACCCTCGCGGCCGCAACGTGTGCCGTGCTCCCGG | CTCCCAG c.180
V A P Q E L N P R G R N V C R A P G | S Q p.60
. . . . . | 03 . g.11021
GTGCCCACGTGCTGCGCTGGCTGGAGGCAGCAAGGGGACGAGTGTGGGATTG | CGGTGTGC c.240
V P T C C A G W R Q Q G D E C G I A | V C p.80
. . . . . . g.11081
GAAGGCAACTCCACGTGCTCAGAGAACGAGGTGTGCGTGAGGCCTGGCGAGTGCCGCTGC c.300
E G N S T C S E N E V C V R P G E C R C p.100
. . . | 04 . . . g.11348
CGCCACGGCTACTTCGGTGCCAACTGCGACACCA | AGTGCCCGCGCCAGTTCTGGGGCCCC c.360
R H G Y F G A N C D T K | C P R Q F W G P p.120
. . . . . . g.11408
GACTGCAAGGAGCTGTGTAGCTGCCACCCACACGGGCAGTGCGAGGACGTGACAGGCCAG c.420
D C K E L C S C H P H G Q C E D V T G Q p.140
. . . . . . g.11468
TGTACTTGTCACGCGCGGCGCTGGGGCGCGCGCTGCGAGCATGCGTGCCAGTGCCAGCAC c.480
C T C H A R R W G A R C E H A C Q C Q H p.160
. . . . . . g.11528
GGCACGTGCCACCCGCGGAGCGGCGCGTGCCGCTGTGAGCCCGGCTGGTGGGGCGCGCAG c.540
G T C H P R S G A C R C E P G W W G A Q p.180
. . . . . . g.11588
TGCGCCAGCGCGTGCTACTGCAGCGCCACGTCGCGCTGCGACCCACAGACCGGCGCCTGC c.600
C A S A C Y C S A T S R C D P Q T G A C p.200
. . . . . . g.11648
CTGTGCCACGCAGGCTGGTGGGGCCGCAGCTGCAACAACCAGTGCGCCTGCAACTCGTCT c.660
L C H A G W W G R S C N N Q C A C N S S p.220
. . . . . . g.11708
CCCTGCGAGCAGCAGAGCGGCCGCTGTCAGTGCCGCGAGCGTACGTTCGGCGCGCGCTGC c.720
P C E Q Q S G R C Q C R E R T F G A R C p.240
. . . . . . g.11768
GATCGCTACTGCCAGTGCTTCCGCGGCCGCTGCCACCCTGTGGACGGCACGTGTGCCTGC c.780
D R Y C Q C F R G R C H P V D G T C A C p.260
. . . . . . g.11828
GAGCCGGGCTACCGCGGCAAGTACTGTCGCGAGCCGTGCCCCGCCGGCTTCTACGGCTTG c.840
E P G Y R G K Y C R E P C P A G F Y G L p.280
. | 05 . . . . . g.11997
GGCTGTCGCCGCCG | GTGTGGCCAGTGCAAGGGCCAGCAGCCGTGCACGGTGGCCGAGGGC c.900
G C R R R | C G Q C K G Q Q P C T V A E G p.300
. . . . . . g.12057
CGCTGCTTGACGTGCGAGCCCGGCTGGAACGGAACCAAGTGCGACCAGCCTTGCGCCACC c.960
R C L T C E P G W N G T K C D Q P C A T p.320
. . . . . . g.12117
GGTTTCTATGGCGAGGGCTGCAGCCACCGCTGTCCGCCATGCCGCGACGGGCATGCCTGT c.1020
G F Y G E G C S H R C P P C R D G H A C p.340
. . . . . | 06 . g.12309
AACCATGTCACCGGCAAGTGTACGCGCTGCAACGCGGGCTGGATCGGCGACCG | GTGCGAG c.1080
N H V T G K C T R C N A G W I G D R | C E p.360
. . . . . . g.12369
ACCAAGTGTAGCAATGGCACTTACGGCGAGGACTGCGCCTTCGTGTGCGCCGACTGCGGC c.1140
T K C S N G T Y G E D C A F V C A D C G p.380
. . . . . . g.12429
AGCGGACACTGCGACTTCCAGTCGGGGCGCTGCCTGTGCAGCCCTGGCGTCCACGGGCCC c.1200
S G H C D F Q S G R C L C S P G V H G P p.400
| 07 . . . . . . g.13084
CA | CTGTAACGTGACGTGCCCGCCCGGACTCCACGGCGCGGACTGTGCTCAGGCCTGCAGC c.1260
H | C N V T C P P G L H G A D C A Q A C S p.420
. . . . | 08 . . g.13220
TGCCACGAGGACACGTGCGACCCGGTCACTGGTGCCTGCCACCTAG | AAACCAACCAGCGC c.1320
C H E D T C D P V T G A C H L E | T N Q R p.440
. . . . . . g.13280
AAGGGCGTGATGGGCGCGGGCGCGCTGCTCGTCCTGCTCGTCTGCCTGCTGCTCTCGCTG c.1380
K G V M G A G A L L V L L V C L L L S L p.460
. . . . | 09 . . g.13535
CTCGGCTGCTGCTGCGCTTGCCGCGGCAAGGACCCTACGCGCCG | GGAGCTTTCGCTTGGG c.1440
L G C C C A C R G K D P T R R | E L S L G p.480
. . . . . . g.13595
AGGAAGAAGGCGCCGCACCGACTATGCGGGCGCTTCAGTCGCATCAGCATGAAGCTGCCC c.1500
R K K A P H R L C G R F S R I S M K L P p.500
. . . . | 10 . . g.15329
CGGATCCCGCTCCGGAGGCAGAAACTACCCAAAGTCGTAG | TGGCCCACCACGACCTGGAT c.1560
R I P L R R Q K L P K V V V | A H H D L D p.520
. . . . . . g.15389
AACACACTCAACTGCAGCTTCCTGGAGCCACCCTCAGGGCTGGAGCAGCCCTCACCATCC c.1620
N T L N C S F L E P P S G L E Q P S P S p.540
. . . . . . g.15449
TGGTCCTCTCGGGCCTCCTTCTCCTCGTTTGACACCACTGATGAAGGCCCTGTGTACTGT c.1680
W S S R A S F S S F D T T D E G P V Y C p.560
. | 11 . . . . . g.16624
GTACCCCATGAGG | AGGCACCAGCGGAGAGCCGGGACCCCGAAGTCCCCACTGTCCCTGCC c.1740
V P H E E | A P A E S R D P E V P T V P A p.580
. . . . . . g.16684
GAGGCGCCGGCGCCGTCCCCTGTGCCCTTGACCACGCCAGCCTCCGCCGAGGAGGCGATA c.1800
E A P A P S P V P L T T P A S A E E A I p.600
. . . . . . g.16744
CCCCTCCCCGCGTCCTCCGACAGCGAGCGGTCGGCGTCCAGCGTGGAGGGGCCCGGAGGG c.1860
P L P A S S D S E R S A S S V E G P G G p.620
. . . . . . g.16804
GCTCTGTACGCGCGCGTGGCCCGACGCGAGGCCCGGCCGGCCCGGGCCCGGGGCGAGATT c.1920
A L Y A R V A R R E A R P A R A R G E I p.640
. . . . . . g.16864
GGGGGCCTGTCGCTGTCGCCATCGCCCGAGCGCAGGAAACCGCCGCCACCTGACCCCGCC c.1980
G G L S L S P S P E R R K P P P P D P A p.660
. . . . . . g.16924
ACCAAGCCTAAGGTGTCCTGGATCCACGGCAAGCACAGCGCCGCTGCAGCTGGCCGTGCG c.2040
T K P K V S W I H G K H S A A A A G R A p.680
. . . . . . g.16984
CCCTCACCACCGCCGCCAGGCTCCGAGGCCGCGCCCAGCCCCAGCAAGAGGAAACGGACG c.2100
P S P P P P G S E A A P S P S K R K R T p.700
. . . . . . g.17044
CCCAGCGACAAATCGGCGCATACGGTCGAACACGGCAGCCCCCGGACCCGCGACCCAACG c.2160
P S D K S A H T V E H G S P R T R D P T p.720
. . . . . . g.17104
CCGCGCCCCCCGGGGCTGCCCGAGGAGGCGACAGCCCTCGCTGCGCCCTCGCCGCCCAGG c.2220
P R P P G L P E E A T A L A A P S P P R p.740
. . . . . . g.17164
GCCCGAGCGCGCGCCGCGCCCCGGCCTCTTGGAGCCCACGGACGCCGGCGGTCCCCCGCG c.2280
A R A R A A P R P L G A H G R R R S P A p.760
. . . . . . g.17224
AAGCGCGCCGAGGCTGCCTCCATGTTGGCCGCTGACGTGCGCGGCAAGACTCGCAGCCTG c.2340
K R A E A A S M L A A D V R G K T R S L p.780
. . . . . . g.17284
GGCCGCGCCGAGGTGGCCCTGGGCGCGCAGGGCCCCAGGGAAAAGCCGGCGCCCCCACAG c.2400
G R A E V A L G A Q G P R E K P A P P Q p.800
. . . . . . g.17344
AAAGCCAAGCGCTCCGTGCCGCCAGCCTCGCCCGCCCGCGCGCCCCCAGCGACCGAAACC c.2460
K A K R S V P P A S P A R A P P A T E T p.820
. . . . . . g.17404
CCGGGGCCTGAGAAGGCGGCGACCGACTTGCCCGCGCCTGAGACCCCCCGGAAGAAGACC c.2520
P G P E K A A T D L P A P E T P R K K T p.840
. . . . . . g.17464
CCCATCCAGAAGCCGCCGCGCAAGAAGAGCCGGGAGGCGGCGGGCGAGCTGGGCAGGGCG c.2580
P I Q K P P R K K S R E A A G E L G R A p.860
. g.17482
GGCGCACCCACCCTGTAG c.2598
G A P T L X p.865
. . . . . . g.17542
caggctgtggctcgtccgcgcgcagctccctcagcttcgcagcgccgcccgccaccccac c.*60
. . . . . . g.17602
acctcccacgctaccgggcacgggcggcctcctattggccgggcaccgcgcggctagcgg c.*120
. . . . . . g.17662
aggttgcgtctcattggctcaggtcctgcagccgctcctggattggagcagtgtgctctg c.*180
. . . . . . g.17722
gcgggaagggcccatcccgttggtcgaggcctgacaggcgcttagcgggcgactccctcc c.*240
. . . . . . g.17782
ccattggccgagttatggagcgctccgaccagacagcgtctcattggccaaagatgggag c.*300
. . . . . . g.17842
ggttccgcttaaagaccgcctcttactggccaggagtggacttggttagggctaccttct c.*360
. . . . . . g.17902
cattggttgcagccagaggcacttctgcccgggctgcctctcccccgctagggcctggtg c.*420
. . . . . . g.17962
cctctggctggaggctccctcccttggccgtcccaatagagcccggggctacttccactg c.*480
. . . . . . g.18022
gccaggctcccgggcatctggttgaccccagcctggggaggagggctggtctccgctcct c.*540
. . . . . . g.18082
caggggcttagtccgtcccaccccttcccttccctggcgccccgggcccaggcccctcag c.*600
. . . . . . g.18142
ctgtcagctggttttgatggcctcccactgccccacacgccgcgggacctccaggggcga c.*660
. . . . . . g.18202
ctctagtggcctgaggagatgtatttataggcccccagcagggctgctcccccctcggcc c.*720
. . . . . . g.18262
ggtgccccaggatgggctcctcccggcgggggcttggccaaagctttcttaataaaatgc c.*780
. g.18273
ctttcccctca c.*791
(downstream sequence)
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