Canonical Allele Identifier: CA346473047

Gene: ALK

Linked Data

• dbSNP Id: rs766238529
• gnomAD v4: 2-29220758-A-G
• MyVariant Identifiers: chr2:g.29443624A>G (hg19) ; chr2:g.29220758A>G (hg38)
• CIViC: CA346473047

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220758A>G , CM000664.2:g.29220758A>G	GRCh38
NC_000002.11:g.29443624A>G , CM000664.1:g.29443624A>G	GRCh37
NC_000002.10:g.29297128A>G	NCBI36
NG_009445.1:g.705809T>C , LRG_488:g.705809T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3593T>C MANE Select	ENSP00000373700.3:p.Leu1198Pro
ENST00000431873.6:c.820T>C
ENST00000638605.1:n.470T>C
ENST00000642122.1:c.389T>C	ENSP00000493203.1:p.Leu130Pro
ENST00000389048.7:c.3593T>C	ENSP00000373700.3:p.Leu1198Pro
ENST00000431873.5:c.473T>C	ENSP00000414027.2:p.Leu158Pro
ENST00000618119.4:c.2462T>C	ENSP00000482733.1:p.Leu821Pro
NM_004304.4:c.3593T>C	NP_004295.2:p.Leu1198Pro
NM_001353765.1:c.389T>C	NP_001340694.1:p.Leu130Pro
XM_024452778.1:c.746T>C	XP_024308546.1:p.Leu249Pro
XM_024452779.1:c.389T>C	XP_024308547.1:p.Leu130Pro
NM_004304.5:c.3593T>C MANE Select	NP_004295.2:p.Leu1198Pro
NM_001353765.2:c.389T>C	NP_001340694.1:p.Leu130Pro