Canonical Allele Identifier: CA44664727

Gene: ALK

Linked Data

• dbSNP Id: rs62130643
• gnomAD v4: 2-29328295-G-T
• MyVariant Identifiers: chr2:g.29551161G>T (hg19) ; chr2:g.29328295G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328295G>T , CM000664.2:g.29328295G>T	GRCh38
NC_000002.11:g.29551161G>T , CM000664.1:g.29551161G>T	GRCh37
NC_000002.10:g.29404665G>T	NCBI36
NG_009445.1:g.598272C>A , LRG_488:g.598272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1414+55C>A MANE Select	ENSP00000373700.3:n.1414+55C>A
ENST00000389048.7:c.1414+55C>A	ENSP00000373700.3:n.1414+55C>A
ENST00000618119.4:c.283+55C>A	ENSP00000482733.1:n.283+55C>A
NM_004304.4:c.1414+55C>A	NP_004295.2:n.1414+55C>A
XR_939920.1:n.693-90G>T
XR_939921.1:n.680+5767G>T
XR_001738688.2:n.2344+55C>A
XR_244977.4:n.1787G>T
XR_939920.2:n.583-90G>T
XR_939921.2:n.576+5767G>T
XR_939922.2:n.1827G>T
NM_004304.5:c.1414+55C>A MANE Select	NP_004295.2:n.1414+55C>A