Canonical Allele Identifier: CA1594552

Gene: ALK

Linked Data

• ClinVar Variation Id: 470770
• ClinVar RCV Id: RCV000525971 ; RCV002256381 ; RCV003313100 ; RCV003236815 ; RCV003962544
• dbSNP Id: rs762358335
• ExAC: 2:29519851 C / T
• gnomAD v2: 2-29519851-C-T
• gnomAD v3: 2-29296985-C-T
• gnomAD v4: 2-29296985-C-T
• COSMIC: COSM4807894
• MyVariant Identifiers: chr2:g.29519851C>T (hg19) ; chr2:g.29296985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29296985C>T , CM000664.2:g.29296985C>T	GRCh38
NC_000002.11:g.29519851C>T , CM000664.1:g.29519851C>T	GRCh37
NC_000002.10:g.29373355C>T	NCBI36
NG_009445.1:g.629582G>A , LRG_488:g.629582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1720G>A MANE Select	ENSP00000373700.3:p.Gly574Arg
ENST00000389048.7:c.1720G>A	ENSP00000373700.3:p.Gly574Arg
ENST00000498037.1:n.275G>A
ENST00000618119.4:c.589G>A	ENSP00000482733.1:p.Gly197Arg
NM_004304.4:c.1720G>A	NP_004295.2:p.Gly574Arg
XR_001738688.2:n.2650G>A
NM_004304.5:c.1720G>A MANE Select	NP_004295.2:p.Gly574Arg