Canonical Allele Identifier: CA346474190

Gene: ALK

Linked Data

• MyVariant Identifiers: chr2:g.29551253C>A (hg19) ; chr2:g.29328387C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328387C>A , CM000664.2:g.29328387C>A	GRCh38
NC_000002.11:g.29551253C>A , CM000664.1:g.29551253C>A	GRCh37
NC_000002.10:g.29404757C>A	NCBI36
NG_009445.1:g.598180G>T , LRG_488:g.598180G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.1377G>T MANE Select	ENSP00000373700.3:p.Gln459His
ENST00000389048.7:c.1377G>T	ENSP00000373700.3:p.Gln459His
ENST00000618119.4:c.246G>T	ENSP00000482733.1:p.Gln82His
NM_004304.4:c.1377G>T	NP_004295.2:p.Gln459His
XR_939920.1:n.695C>A
XR_939921.1:n.680+5859C>A
XR_001738688.2:n.2307G>T
XR_939920.2:n.585C>A
XR_939921.2:n.576+5859C>A
NM_004304.5:c.1377G>T MANE Select	NP_004295.2:p.Gln459His