Canonical Allele Identifier: CA346473093

Gene: ALK

Linked Data

• dbSNP Id: rs971799902
• gnomAD v4: 2-29220785-G-C
• MyVariant Identifiers: chr2:g.29443651G>C (hg19) ; chr2:g.29220785G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220785G>C , CM000664.2:g.29220785G>C	GRCh38
NC_000002.11:g.29443651G>C , CM000664.1:g.29443651G>C	GRCh37
NC_000002.10:g.29297155G>C	NCBI36
NG_009445.1:g.705782C>G , LRG_488:g.705782C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3566C>G MANE Select	ENSP00000373700.3:p.Ser1189Cys
ENST00000431873.6:c.793C>G
ENST00000638605.1:n.443C>G
ENST00000642122.1:c.362C>G	ENSP00000493203.1:p.Ser121Cys
ENST00000389048.7:c.3566C>G	ENSP00000373700.3:p.Ser1189Cys
ENST00000431873.5:c.446C>G	ENSP00000414027.2:p.Ser149Cys
ENST00000618119.4:c.2435C>G	ENSP00000482733.1:p.Ser812Cys
NM_004304.4:c.3566C>G	NP_004295.2:p.Ser1189Cys
NM_001353765.1:c.362C>G	NP_001340694.1:p.Ser121Cys
XM_024452778.1:c.719C>G	XP_024308546.1:p.Ser240Cys
XM_024452779.1:c.362C>G	XP_024308547.1:p.Ser121Cys
NM_004304.5:c.3566C>G MANE Select	NP_004295.2:p.Ser1189Cys
NM_001353765.2:c.362C>G	NP_001340694.1:p.Ser121Cys