Canonical Allele Identifier: CA1594814
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29694877C>T
GRCh37 chr2:g.29917743C>T
Revel Score:
ENST00000389048 (MANE Select) 0.087
gnomAD v2:
2:29917743 C / T
gnomAD v3:
2:29694877 C / T
gnomAD v4:
chr2-29694877-C-T
Joint Max Group AF 0.00017678 (AFR)
Genomes Max Group AF 0.00013045 (AFR)
Exomes Max Group AF 0.00016129 (AFR)
ClinVar RCV:
RCV000476286
ClinVar Variation:
404349
dbSNP:
145681577
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29694877C>T , CM000664.2:g.29694877C>T GRCh38
NC_000002.11:g.29917743C>T , CM000664.1:g.29917743C>T GRCh37
NC_000002.10:g.29771247C>T NCBI36
NG_009445.1:g.231690G>A , LRG_488:g.231690G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.925G>A MANE Select ENSP00000373700.3:p.Ala309Thr
ENST00000389048.7:c.925G>A ENSP00000373700.3:p.Ala309Thr
ENST00000618119.4:c.-207G>A ENSP00000482733.1:n.-207G>A
NM_004304.4:c.925G>A NP_004295.2:p.Ala309Thr
XR_001738688.2:n.1855G>A
NM_004304.5:c.925G>A MANE Select NP_004295.2:p.Ala309Thr
Search 100 bp 5'
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