Canonical Allele Identifier: CA346462867

Gene: ALK

Linked Data

• dbSNP Id: rs2148168511
• gnomAD v4: 2-29222344-C-T
• MyVariant Identifiers: chr2:g.29445210C>T (hg19) ; chr2:g.29222344C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222344C>T , CM000664.2:g.29222344C>T	GRCh38
NC_000002.11:g.29445210C>T , CM000664.1:g.29445210C>T	GRCh37
NC_000002.10:g.29298714C>T	NCBI36
NG_009445.1:g.704223G>A , LRG_488:g.704223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3515G>A MANE Select	ENSP00000373700.3:p.Ser1172Asn
ENST00000431873.6:c.742G>A
ENST00000638605.1:n.392G>A
ENST00000642122.1:c.311G>A	ENSP00000493203.1:p.Ser104Asn
ENST00000389048.7:c.3515G>A	ENSP00000373700.3:p.Ser1172Asn
ENST00000431873.5:c.395G>A	ENSP00000414027.2:p.Ser132Asn
ENST00000453137.1:c.209G>A	ENSP00000387488.1:p.Ser70Asn
ENST00000618119.4:c.2384G>A	ENSP00000482733.1:p.Ser795Asn
NM_004304.4:c.3515G>A	NP_004295.2:p.Ser1172Asn
NM_001353765.1:c.311G>A	NP_001340694.1:p.Ser104Asn
XM_024452778.1:c.668G>A	XP_024308546.1:p.Ser223Asn
XM_024452779.1:c.311G>A	XP_024308547.1:p.Ser104Asn
NM_004304.5:c.3515G>A MANE Select	NP_004295.2:p.Ser1172Asn
NM_001353765.2:c.311G>A	NP_001340694.1:p.Ser104Asn