Canonical Allele Identifier: CA346469653

Gene: ALK

Linked Data

• ClinVar Variation Id: 575655
• ClinVar RCV Id: RCV000697937
• dbSNP Id: rs1558614450
• MyVariant Identifiers: chr2:g.29432687C>G (hg19) ; chr2:g.29209821C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29209821C>G , CM000664.2:g.29209821C>G	GRCh38
NC_000002.11:g.29432687C>G , CM000664.1:g.29432687C>G	GRCh37
NC_000002.10:g.29286191C>G	NCBI36
NG_009445.1:g.716746G>C , LRG_488:g.716746G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3801G>C MANE Select	ENSP00000373700.3:p.Lys1267Asn
ENST00000431873.6:c.1028G>C
ENST00000638605.1:n.678G>C
ENST00000642122.1:c.597G>C	ENSP00000493203.1:p.Lys199Asn
ENST00000389048.7:c.3801G>C	ENSP00000373700.3:p.Lys1267Asn
ENST00000431873.5:c.681G>C	ENSP00000414027.2:p.Lys227Asn
ENST00000618119.4:c.2670G>C	ENSP00000482733.1:p.Lys890Asn
NM_004304.4:c.3801G>C	NP_004295.2:p.Lys1267Asn
NM_001353765.1:c.597G>C	NP_001340694.1:p.Lys199Asn
XM_024452778.1:c.954G>C	XP_024308546.1:p.Lys318Asn
XM_024452779.1:c.597G>C	XP_024308547.1:p.Lys199Asn
NM_004304.5:c.3801G>C MANE Select	NP_004295.2:p.Lys1267Asn
NM_001353765.2:c.597G>C	NP_001340694.1:p.Lys199Asn