Canonical Allele Identifier: CA346473027

Gene: ALK

Linked Data

• ClinVar Variation Id: 2566583
• ClinVar RCV Id: RCV003306620 ; RCV003517481
• dbSNP Id: rs1057519783
• MyVariant Identifiers: chr2:g.29443613C>G (hg19) ; chr2:g.29220747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220747C>G , CM000664.2:g.29220747C>G	GRCh38
NC_000002.11:g.29443613C>G , CM000664.1:g.29443613C>G	GRCh37
NC_000002.10:g.29297117C>G	NCBI36
NG_009445.1:g.705820G>C , LRG_488:g.705820G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3604G>C MANE Select	ENSP00000373700.3:p.Gly1202Arg
ENST00000431873.6:c.831G>C
ENST00000638605.1:n.481G>C
ENST00000642122.1:c.400G>C	ENSP00000493203.1:p.Gly134Arg
ENST00000389048.7:c.3604G>C	ENSP00000373700.3:p.Gly1202Arg
ENST00000431873.5:c.484G>C	ENSP00000414027.2:p.Gly162Arg
ENST00000618119.4:c.2473G>C	ENSP00000482733.1:p.Gly825Arg
NM_004304.4:c.3604G>C	NP_004295.2:p.Gly1202Arg
NM_001353765.1:c.400G>C	NP_001340694.1:p.Gly134Arg
XM_024452778.1:c.757G>C	XP_024308546.1:p.Gly253Arg
XM_024452779.1:c.400G>C	XP_024308547.1:p.Gly134Arg
NM_004304.5:c.3604G>C MANE Select	NP_004295.2:p.Gly1202Arg
NM_001353765.2:c.400G>C	NP_001340694.1:p.Gly134Arg