Canonical Allele Identifier: CA425627819
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29920576G>A
GRCh37 chr2:g.30143442G>A
gnomAD v2:
2:30143442 G / A
gnomAD v3:
2:29920576 G / A
gnomAD v4:
chr2-29920576-G-A
Joint Max Group AF 0.00001039 (NFE)
Exomes Max Group AF 0.00001021 (NFE)
ClinVar RCV:
RCV000647439
RCV002449061
ClinVar Variation:
538234
dbSNP:
1355709394
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29920576G>A , CM000664.2:g.29920576G>A GRCh38
NC_000002.11:g.30143442G>A , CM000664.1:g.30143442G>A GRCh37
NC_000002.10:g.29996946G>A NCBI36
NG_009445.1:g.5991C>T , LRG_488:g.5991C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.84C>T MANE Select ENSP00000373700.3:p.Arg28=
ENST00000389048.7:c.84C>T ENSP00000373700.3:p.Arg28=
NM_004304.4:c.84C>T NP_004295.2:p.Arg28=
XR_001738688.2:n.1014C>T
NM_004304.5:c.84C>T MANE Select NP_004295.2:p.Arg28=
Search 100 bp 5'
Search 100 bp 3'