Canonical Allele Identifier: CA1595067

Gene: ALK

Linked Data

• ClinVar Variation Id: 335718
• ClinVar RCV Id: RCV000647453 ; RCV000997105 ; RCV002257647
• dbSNP Id: rs767822322
• ExAC: 2:30143494 G / A
• gnomAD v2: 2-30143494-G-A
• gnomAD v3: 2-29920628-G-A
• gnomAD v4: 2-29920628-G-A
• MyVariant Identifiers: chr2:g.30143494G>A (hg19) ; chr2:g.29920628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920628G>A , CM000664.2:g.29920628G>A	GRCh38
NC_000002.11:g.30143494G>A , CM000664.1:g.30143494G>A	GRCh37
NC_000002.10:g.29996998G>A	NCBI36
NG_009445.1:g.5939C>T , LRG_488:g.5939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.32C>T MANE Select	ENSP00000373700.3:p.Pro11Leu
ENST00000389048.7:c.32C>T	ENSP00000373700.3:p.Pro11Leu
NM_004304.4:c.32C>T	NP_004295.2:p.Pro11Leu
XR_001738688.2:n.962C>T
NM_004304.5:c.32C>T MANE Select	NP_004295.2:p.Pro11Leu