Canonical Allele Identifier: CA346462887

Gene: ALK

Linked Data

• dbSNP Id: rs2148168544
• gnomAD v4: 2-29222348-T-C
• MyVariant Identifiers: chr2:g.29445214T>C (hg19) ; chr2:g.29222348T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222348T>C , CM000664.2:g.29222348T>C	GRCh38
NC_000002.11:g.29445214T>C , CM000664.1:g.29445214T>C	GRCh37
NC_000002.10:g.29298718T>C	NCBI36
NG_009445.1:g.704219A>G , LRG_488:g.704219A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3511A>G MANE Select	ENSP00000373700.3:p.Ile1171Val
ENST00000431873.6:c.738A>G
ENST00000638605.1:n.388A>G
ENST00000642122.1:c.307A>G	ENSP00000493203.1:p.Ile103Val
ENST00000389048.7:c.3511A>G	ENSP00000373700.3:p.Ile1171Val
ENST00000431873.5:c.391A>G	ENSP00000414027.2:p.Ile131Val
ENST00000453137.1:c.205A>G	ENSP00000387488.1:p.Ile69Val
ENST00000618119.4:c.2380A>G	ENSP00000482733.1:p.Ile794Val
NM_004304.4:c.3511A>G	NP_004295.2:p.Ile1171Val
NM_001353765.1:c.307A>G	NP_001340694.1:p.Ile103Val
XM_024452778.1:c.664A>G	XP_024308546.1:p.Ile222Val
XM_024452779.1:c.307A>G	XP_024308547.1:p.Ile103Val
NM_004304.5:c.3511A>G MANE Select	NP_004295.2:p.Ile1171Val
NM_001353765.2:c.307A>G	NP_001340694.1:p.Ile103Val