Canonical Allele Identifier: CA346473065

Gene: ALK

Linked Data

• dbSNP Id: rs2148166521
• gnomAD v4: 2-29220768-G-C
• MyVariant Identifiers: chr2:g.29443634G>C (hg19) ; chr2:g.29220768G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220768G>C , CM000664.2:g.29220768G>C	GRCh38
NC_000002.11:g.29443634G>C , CM000664.1:g.29443634G>C	GRCh37
NC_000002.10:g.29297138G>C	NCBI36
NG_009445.1:g.705799C>G , LRG_488:g.705799C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3583C>G MANE Select	ENSP00000373700.3:p.Leu1195Val
ENST00000431873.6:c.810C>G
ENST00000638605.1:n.460C>G
ENST00000642122.1:c.379C>G	ENSP00000493203.1:p.Leu127Val
ENST00000389048.7:c.3583C>G	ENSP00000373700.3:p.Leu1195Val
ENST00000431873.5:c.463C>G	ENSP00000414027.2:p.Leu155Val
ENST00000618119.4:c.2452C>G	ENSP00000482733.1:p.Leu818Val
NM_004304.4:c.3583C>G	NP_004295.2:p.Leu1195Val
NM_001353765.1:c.379C>G	NP_001340694.1:p.Leu127Val
XM_024452778.1:c.736C>G	XP_024308546.1:p.Leu246Val
XM_024452779.1:c.379C>G	XP_024308547.1:p.Leu127Val
NM_004304.5:c.3583C>G MANE Select	NP_004295.2:p.Leu1195Val
NM_001353765.2:c.379C>G	NP_001340694.1:p.Leu127Val