Canonical Allele Identifier: CA346463104

Gene: ALK

Linked Data

• dbSNP Id: rs1242363681
• gnomAD v2: 2-29445243-T-G
• gnomAD v3: 2-29222377-T-G
• gnomAD v4: 2-29222377-T-G
• MyVariant Identifiers: chr2:g.29445243T>G (hg19) ; chr2:g.29222377T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222377T>G , CM000664.2:g.29222377T>G	GRCh38
NC_000002.11:g.29445243T>G , CM000664.1:g.29445243T>G	GRCh37
NC_000002.10:g.29298747T>G	NCBI36
NG_009445.1:g.704190A>C , LRG_488:g.704190A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3482A>C MANE Select	ENSP00000373700.3:p.Glu1161Ala
ENST00000431873.6:c.709A>C
ENST00000638605.1:n.359A>C
ENST00000642122.1:c.278A>C	ENSP00000493203.1:p.Glu93Ala
ENST00000389048.7:c.3482A>C	ENSP00000373700.3:p.Glu1161Ala
ENST00000431873.5:c.362A>C	ENSP00000414027.2:p.Glu121Ala
ENST00000453137.1:c.176A>C	ENSP00000387488.1:p.Glu59Ala
ENST00000618119.4:c.2351A>C	ENSP00000482733.1:p.Glu784Ala
NM_004304.4:c.3482A>C	NP_004295.2:p.Glu1161Ala
NM_001353765.1:c.278A>C	NP_001340694.1:p.Glu93Ala
XM_024452778.1:c.635A>C	XP_024308546.1:p.Glu212Ala
XM_024452779.1:c.278A>C	XP_024308547.1:p.Glu93Ala
NM_004304.5:c.3482A>C MANE Select	NP_004295.2:p.Glu1161Ala
NM_001353765.2:c.278A>C	NP_001340694.1:p.Glu93Ala