Canonical Allele Identifier: CA1595006

Gene: ALK

Linked Data

• ClinVar Variation Id: 239819
• ClinVar RCV Id: RCV000229111 ; RCV002257559 ; RCV002307461
• dbSNP Id: rs576431612
• ExAC: 2:30143216 G / A
• gnomAD v2: 2-30143216-G-A
• gnomAD v3: 2-29920350-G-A
• gnomAD v4: 2-29920350-G-A
• MyVariant Identifiers: chr2:g.30143216G>A (hg19) ; chr2:g.29920350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920350G>A , CM000664.2:g.29920350G>A	GRCh38
NC_000002.11:g.30143216G>A , CM000664.1:g.30143216G>A	GRCh37
NC_000002.10:g.29996720G>A	NCBI36
NG_009445.1:g.6217C>T , LRG_488:g.6217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.310C>T MANE Select	ENSP00000373700.3:p.Pro104Ser
ENST00000389048.7:c.310C>T	ENSP00000373700.3:p.Pro104Ser
NM_004304.4:c.310C>T	NP_004295.2:p.Pro104Ser
XR_001738688.2:n.1240C>T
NM_004304.5:c.310C>T MANE Select	NP_004295.2:p.Pro104Ser