Canonical Allele Identifier: CA1593919

Gene: ALK

Linked Data

• ClinVar Variation Id: 640114
• ClinVar RCV Id: RCV000793070 ; RCV003166101
• dbSNP Id: rs760322018
• ExAC: 2:29445212 G / C
• gnomAD v2: 2-29445212-G-C
• gnomAD v3: 2-29222346-G-C
• gnomAD v4: 2-29222346-G-C
• MyVariant Identifiers: chr2:g.29445212G>C (hg19) ; chr2:g.29222346G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222346G>C , CM000664.2:g.29222346G>C	GRCh38
NC_000002.11:g.29445212G>C , CM000664.1:g.29445212G>C	GRCh37
NC_000002.10:g.29298716G>C	NCBI36
NG_009445.1:g.704221C>G , LRG_488:g.704221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3513C>G MANE Select	ENSP00000373700.3:p.Ile1171Met
ENST00000431873.6:c.740C>G
ENST00000638605.1:n.390C>G
ENST00000642122.1:c.309C>G	ENSP00000493203.1:p.Ile103Met
ENST00000389048.7:c.3513C>G	ENSP00000373700.3:p.Ile1171Met
ENST00000431873.5:c.393C>G	ENSP00000414027.2:p.Ile131Met
ENST00000453137.1:c.207C>G	ENSP00000387488.1:p.Ile69Met
ENST00000618119.4:c.2382C>G	ENSP00000482733.1:p.Ile794Met
NM_004304.4:c.3513C>G	NP_004295.2:p.Ile1171Met
NM_001353765.1:c.309C>G	NP_001340694.1:p.Ile103Met
XM_024452778.1:c.666C>G	XP_024308546.1:p.Ile222Met
XM_024452779.1:c.309C>G	XP_024308547.1:p.Ile103Met
NM_004304.5:c.3513C>G MANE Select	NP_004295.2:p.Ile1171Met
NM_001353765.2:c.309C>G	NP_001340694.1:p.Ile103Met