Canonical Allele Identifier: CA346473071

Gene: ALK

Linked Data

• dbSNP Id: rs2148166529
• MyVariant Identifiers: chr2:g.29443637T>A (hg19) ; chr2:g.29220771T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220771T>A , CM000664.2:g.29220771T>A	GRCh38
NC_000002.11:g.29443637T>A , CM000664.1:g.29443637T>A	GRCh37
NC_000002.10:g.29297141T>A	NCBI36
NG_009445.1:g.705796A>T , LRG_488:g.705796A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3580A>T MANE Select	ENSP00000373700.3:p.Ile1194Phe
ENST00000431873.6:c.807A>T
ENST00000638605.1:n.457A>T
ENST00000642122.1:c.376A>T	ENSP00000493203.1:p.Ile126Phe
ENST00000389048.7:c.3580A>T	ENSP00000373700.3:p.Ile1194Phe
ENST00000431873.5:c.460A>T	ENSP00000414027.2:p.Ile154Phe
ENST00000618119.4:c.2449A>T	ENSP00000482733.1:p.Ile817Phe
NM_004304.4:c.3580A>T	NP_004295.2:p.Ile1194Phe
NM_001353765.1:c.376A>T	NP_001340694.1:p.Ile126Phe
XM_024452778.1:c.733A>T	XP_024308546.1:p.Ile245Phe
XM_024452779.1:c.376A>T	XP_024308547.1:p.Ile126Phe
NM_004304.5:c.3580A>T MANE Select	NP_004295.2:p.Ile1194Phe
NM_001353765.2:c.376A>T	NP_001340694.1:p.Ile126Phe