Canonical Allele Identifier: CA1595037

Gene: ALK

Linked Data

• ClinVar Variation Id: 470748
• ClinVar RCV Id: RCV000551780 ; RCV001356620
• dbSNP Id: rs541315214
• ExAC: 2:30143386 G / A
• gnomAD v2: 2-30143386-G-A
• gnomAD v3: 2-29920520-G-A
• gnomAD v4: 2-29920520-G-A
• MyVariant Identifiers: chr2:g.30143386G>A (hg19) ; chr2:g.29920520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920520G>A , CM000664.2:g.29920520G>A	GRCh38
NC_000002.11:g.30143386G>A , CM000664.1:g.30143386G>A	GRCh37
NC_000002.10:g.29996890G>A	NCBI36
NG_009445.1:g.6047C>T , LRG_488:g.6047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.140C>T MANE Select	ENSP00000373700.3:p.Ser47Leu
ENST00000389048.7:c.140C>T	ENSP00000373700.3:p.Ser47Leu
NM_004304.4:c.140C>T	NP_004295.2:p.Ser47Leu
XR_001738688.2:n.1070C>T
NM_004304.5:c.140C>T MANE Select	NP_004295.2:p.Ser47Leu