Canonical Allele Identifier: CA1593918

Gene: ALK

Linked Data

• ClinVar Variation Id: 516594
• ClinVar RCV Id: RCV000608433 ; RCV002064378
• dbSNP Id: rs79325200
• ExAC: 2:29445192 G / A
• gnomAD v2: 2-29445192-G-A
• gnomAD v3: 2-29222326-G-A
• gnomAD v4: 2-29222326-G-A
• COSMIC: COSM28496
• MyVariant Identifiers: chr2:g.29445192G>A (hg19) ; chr2:g.29222326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222326G>A , CM000664.2:g.29222326G>A	GRCh38
NC_000002.11:g.29445192G>A , CM000664.1:g.29445192G>A	GRCh37
NC_000002.10:g.29298696G>A	NCBI36
NG_009445.1:g.704241C>T , LRG_488:g.704241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3515+18C>T MANE Select	ENSP00000373700.3:n.3515+18C>T
ENST00000431873.6:c.742+18C>T
ENST00000638605.1:n.392+18C>T
ENST00000642122.1:c.311+18C>T	ENSP00000493203.1:n.311+18C>T
ENST00000389048.7:c.3515+18C>T	ENSP00000373700.3:n.3515+18C>T
ENST00000431873.5:c.395+18C>T	ENSP00000414027.2:n.395+18C>T
ENST00000453137.1:c.209+18C>T	ENSP00000387488.1:n.209+18C>T
ENST00000618119.4:c.2384+18C>T	ENSP00000482733.1:n.2384+18C>T
NM_004304.4:c.3515+18C>T	NP_004295.2:n.3515+18C>T
NM_001353765.1:c.311+18C>T	NP_001340694.1:n.311+18C>T
XM_024452778.1:c.668+18C>T	XP_024308546.1:n.668+18C>T
XM_024452779.1:c.311+18C>T	XP_024308547.1:n.311+18C>T
NM_004304.5:c.3515+18C>T MANE Select	NP_004295.2:n.3515+18C>T
NM_001353765.2:c.311+18C>T	NP_001340694.1:n.311+18C>T