Canonical Allele Identifier: CA1594951

Gene: ALK

Linked Data

• ClinVar Variation Id: 538235
• ClinVar RCV Id: RCV000647440 ; RCV002257901
• dbSNP Id: rs752129360
• ExAC: 2:30143020 T / C
• gnomAD v2: 2-30143020-T-C
• gnomAD v3: 2-29920154-T-C
• gnomAD v4: 2-29920154-T-C
• COSMIC: COSM4952559 ; COSM5349067
• MyVariant Identifiers: chr2:g.30143020T>C (hg19) ; chr2:g.29920154T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920154T>C , CM000664.2:g.29920154T>C	GRCh38
NC_000002.11:g.30143020T>C , CM000664.1:g.30143020T>C	GRCh37
NC_000002.10:g.29996524T>C	NCBI36
NG_009445.1:g.6413A>G , LRG_488:g.6413A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.506A>G MANE Select	ENSP00000373700.3:p.Asn169Ser
ENST00000389048.7:c.506A>G	ENSP00000373700.3:p.Asn169Ser
NM_004304.4:c.506A>G	NP_004295.2:p.Asn169Ser
XR_001738688.2:n.1436A>G
NM_004304.5:c.506A>G MANE Select	NP_004295.2:p.Asn169Ser