Canonical Allele Identifier: CA44631173

Gene: ALK

Linked Data

• dbSNP Id: rs546333460
• gnomAD v3: 2-29222349-G-C
• gnomAD v4: 2-29222349-G-C
• MyVariant Identifiers: chr2:g.29445215G>C (hg19) ; chr2:g.29222349G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222349G>C , CM000664.2:g.29222349G>C	GRCh38
NC_000002.11:g.29445215G>C , CM000664.1:g.29445215G>C	GRCh37
NC_000002.10:g.29298719G>C	NCBI36
NG_009445.1:g.704218C>G , LRG_488:g.704218C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3510C>G MANE Select	ENSP00000373700.3:p.Ile1170Met
ENST00000431873.6:c.737C>G
ENST00000638605.1:n.387C>G
ENST00000642122.1:c.306C>G	ENSP00000493203.1:p.Ile102Met
ENST00000389048.7:c.3510C>G	ENSP00000373700.3:p.Ile1170Met
ENST00000431873.5:c.390C>G	ENSP00000414027.2:p.Ile130Met
ENST00000453137.1:c.204C>G	ENSP00000387488.1:p.Ile68Met
ENST00000618119.4:c.2379C>G	ENSP00000482733.1:p.Ile793Met
NM_004304.4:c.3510C>G	NP_004295.2:p.Ile1170Met
NM_001353765.1:c.306C>G	NP_001340694.1:p.Ile102Met
XM_024452778.1:c.663C>G	XP_024308546.1:p.Ile221Met
XM_024452779.1:c.306C>G	XP_024308547.1:p.Ile102Met
NM_004304.5:c.3510C>G MANE Select	NP_004295.2:p.Ile1170Met
NM_001353765.2:c.306C>G	NP_001340694.1:p.Ile102Met