Canonical Allele Identifier: CA1593855

Gene: ALK

Linked Data

• ClinVar Variation Id: 1423594
• ClinVar RCV Id: RCV001954848 ; RCV002458818
• dbSNP Id: rs200585833
• ExAC: 2:29443618 G / C
• gnomAD v2: 2-29443618-G-C
• gnomAD v3: 2-29220752-G-C
• gnomAD v4: 2-29220752-G-C
• MyVariant Identifiers: chr2:g.29443618G>C (hg19) ; chr2:g.29220752G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220752G>C , CM000664.2:g.29220752G>C	GRCh38
NC_000002.11:g.29443618G>C , CM000664.1:g.29443618G>C	GRCh37
NC_000002.10:g.29297122G>C	NCBI36
NG_009445.1:g.705815C>G , LRG_488:g.705815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3599C>G MANE Select	ENSP00000373700.3:p.Ala1200Gly
ENST00000431873.6:c.826C>G
ENST00000638605.1:n.476C>G
ENST00000642122.1:c.395C>G	ENSP00000493203.1:p.Ala132Gly
ENST00000389048.7:c.3599C>G	ENSP00000373700.3:p.Ala1200Gly
ENST00000431873.5:c.479C>G	ENSP00000414027.2:p.Ala160Gly
ENST00000618119.4:c.2468C>G	ENSP00000482733.1:p.Ala823Gly
NM_004304.4:c.3599C>G	NP_004295.2:p.Ala1200Gly
NM_001353765.1:c.395C>G	NP_001340694.1:p.Ala132Gly
XM_024452778.1:c.752C>G	XP_024308546.1:p.Ala251Gly
XM_024452779.1:c.395C>G	XP_024308547.1:p.Ala132Gly
NM_004304.5:c.3599C>G MANE Select	NP_004295.2:p.Ala1200Gly
NM_001353765.2:c.395C>G	NP_001340694.1:p.Ala132Gly