Canonical Allele Identifier: CA16610715
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29275124T>A
GRCh37 chr2:g.29497990T>A
Revel Score:
ENST00000389048 (MANE Select) 0.102
gnomAD v2:
2:29497990 T / A
gnomAD v4:
chr2-29275124-T-A
Joint Max Group AF 0.0001709 (EAS)
Exomes Max Group AF 0.00019285 (EAS)
ClinVar RCV:
RCV000457475
ClinVar Variation:
404376
dbSNP:
1060500225
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29275124T>A , CM000664.2:g.29275124T>A GRCh38
NC_000002.11:g.29497990T>A , CM000664.1:g.29497990T>A GRCh37
NC_000002.10:g.29351494T>A NCBI36
NG_009445.1:g.651443A>T , LRG_488:g.651443A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.2016A>T MANE Select ENSP00000373700.3:p.Arg672Ser
ENST00000389048.7:c.2016A>T ENSP00000373700.3:p.Arg672Ser
ENST00000618119.4:c.885A>T ENSP00000482733.1:p.Arg295Ser
NM_004304.4:c.2016A>T NP_004295.2:p.Arg672Ser
XR_001738688.2:n.2946A>T
NM_004304.5:c.2016A>T MANE Select NP_004295.2:p.Arg672Ser
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