Canonical Allele Identifier: CA1594963

Gene: ALK

Linked Data

• ClinVar Variation Id: 239842
• ClinVar RCV Id: RCV000229990 ; RCV001022915 ; RCV001824304
• dbSNP Id: rs74774946
• ExAC: 2:30143057 G / A
• gnomAD v2: 2-30143057-G-A
• gnomAD v3: 2-29920191-G-A
• gnomAD v4: 2-29920191-G-A
• MyVariant Identifiers: chr2:g.30143057G>A (hg19) ; chr2:g.29920191G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920191G>A , CM000664.2:g.29920191G>A	GRCh38
NC_000002.11:g.30143057G>A , CM000664.1:g.30143057G>A	GRCh37
NC_000002.10:g.29996561G>A	NCBI36
NG_009445.1:g.6376C>T , LRG_488:g.6376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.469C>T MANE Select	ENSP00000373700.3:p.Pro157Ser
ENST00000389048.7:c.469C>T	ENSP00000373700.3:p.Pro157Ser
NM_004304.4:c.469C>T	NP_004295.2:p.Pro157Ser
XR_001738688.2:n.1399C>T
NM_004304.5:c.469C>T MANE Select	NP_004295.2:p.Pro157Ser