Canonical Allele Identifier: CA1594995

Gene: ALK

Linked Data

• ClinVar Variation Id: 538246
• ClinVar RCV Id: RCV000647455 ; RCV003153787 ; RCV004025737
• dbSNP Id: rs758250431
• ExAC: 2:30143169 C / A
• gnomAD v2: 2-30143169-C-A
• gnomAD v3: 2-29920303-C-A
• gnomAD v4: 2-29920303-C-A
• MyVariant Identifiers: chr2:g.30143169C>A (hg19) ; chr2:g.29920303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920303C>A , CM000664.2:g.29920303C>A	GRCh38
NC_000002.11:g.30143169C>A , CM000664.1:g.30143169C>A	GRCh37
NC_000002.10:g.29996673C>A	NCBI36
NG_009445.1:g.6264G>T , LRG_488:g.6264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.357G>T MANE Select	ENSP00000373700.3:p.Glu119Asp
ENST00000389048.7:c.357G>T	ENSP00000373700.3:p.Glu119Asp
NM_004304.4:c.357G>T	NP_004295.2:p.Glu119Asp
XR_001738688.2:n.1287G>T
NM_004304.5:c.357G>T MANE Select	NP_004295.2:p.Glu119Asp