Canonical Allele Identifier: CA1594934

Gene: ALK

Linked Data

• ClinVar Variation Id: 412941
• ClinVar RCV Id: RCV000456861 ; RCV001024960
• dbSNP Id: rs567498111
• ExAC: 2:30142911 G / C
• gnomAD v2: 2-30142911-G-C
• gnomAD v3: 2-29920045-G-C
• gnomAD v4: 2-29920045-G-C
• MyVariant Identifiers: chr2:g.30142911G>C (hg19) ; chr2:g.29920045G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920045G>C , CM000664.2:g.29920045G>C	GRCh38
NC_000002.11:g.30142911G>C , CM000664.1:g.30142911G>C	GRCh37
NC_000002.10:g.29996415G>C	NCBI36
NG_009445.1:g.6522C>G , LRG_488:g.6522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.615C>G MANE Select	ENSP00000373700.3:p.Ser205=
ENST00000389048.7:c.615C>G	ENSP00000373700.3:p.Ser205=
NM_004304.4:c.615C>G	NP_004295.2:p.Ser205=
XR_001738688.2:n.1545C>G
NM_004304.5:c.615C>G MANE Select	NP_004295.2:p.Ser205=