Canonical Allele Identifier: CA10613172

Gene: ALK

Linked Data

• ClinVar Variation Id: 335728
• ClinVar RCV Id: RCV000392419 ; RCV002263610
• dbSNP Id: rs755231246
• gnomAD v2: 2-30143940-A-G
• gnomAD v3: 2-29921074-A-G
• gnomAD v4: 2-29921074-A-G
• MyVariant Identifiers: chr2:g.30143940A>G (hg19) ; chr2:g.29921074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29921074A>G , CM000664.2:g.29921074A>G	GRCh38
NC_000002.11:g.30143940A>G , CM000664.1:g.30143940A>G	GRCh37
NC_000002.10:g.29997444A>G	NCBI36
NG_009445.1:g.5493T>C , LRG_488:g.5493T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.-415T>C MANE Select	ENSP00000373700.3:n.-415T>C
ENST00000389048.7:c.-415T>C	ENSP00000373700.3:n.-415T>C
NM_004304.4:c.-415T>C	NP_004295.2:n.-415T>C
XR_001738688.2:n.516T>C
NM_004304.5:c.-415T>C MANE Select	NP_004295.2:n.-415T>C