Canonical Allele Identifier: CA1594898

Gene: ALK

Linked Data

• ClinVar Variation Id: 538218
• ClinVar RCV Id: RCV000647423 ; RCV002256446 ; RCV003317320
• dbSNP Id: rs142120301
• ExAC: 2:29940539 G / C
• gnomAD v2: 2-29940539-G-C
• gnomAD v3: 2-29717673-G-C
• gnomAD v4: 2-29717673-G-C
• MyVariant Identifiers: chr2:g.29940539G>C (hg19) ; chr2:g.29717673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29717673G>C , CM000664.2:g.29717673G>C	GRCh38
NC_000002.11:g.29940539G>C , CM000664.1:g.29940539G>C	GRCh37
NC_000002.10:g.29794043G>C	NCBI36
NG_009445.1:g.208894C>G , LRG_488:g.208894C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.692C>G MANE Select	ENSP00000373700.3:p.Thr231Arg
ENST00000389048.7:c.692C>G	ENSP00000373700.3:p.Thr231Arg
ENST00000618119.4:c.-440C>G	ENSP00000482733.1:n.-440C>G
NM_004304.4:c.692C>G	NP_004295.2:p.Thr231Arg
XR_001738688.2:n.1622C>G
NM_004304.5:c.692C>G MANE Select	NP_004295.2:p.Thr231Arg