Canonical Allele Identifier: CA1594630
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29320769G>A
GRCh37 chr2:g.29543635G>A
Revel Score:
ENST00000389048 (MANE Select) 0.087
gnomAD v2:
2:29543635 G / A
gnomAD v3:
2:29320769 G / A
gnomAD v4:
chr2-29320769-G-A
Joint Max Group AF 0.00057572 (EAS)
Genomes Max Group AF 0.0002631 (EAS)
Exomes Max Group AF 0.00056493 (EAS)
ClinVar RCV:
RCV000532921
RCV003900208
ClinVar Variation:
470755
dbSNP:
201449759
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29320769G>A , CM000664.2:g.29320769G>A GRCh38
NC_000002.11:g.29543635G>A , CM000664.1:g.29543635G>A GRCh37
NC_000002.10:g.29397139G>A NCBI36
NG_009445.1:g.605798C>T , LRG_488:g.605798C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1528C>T MANE Select ENSP00000373700.3:p.Arg510Trp
ENST00000389048.7:c.1528C>T ENSP00000373700.3:p.Arg510Trp
ENST00000618119.4:c.397C>T ENSP00000482733.1:p.Arg133Trp
NM_004304.4:c.1528C>T NP_004295.2:p.Arg510Trp
XR_244977.3:n.560+796G>A
XR_939920.1:n.584-710G>A
XR_939921.1:n.572-710G>A
XR_939922.1:n.563-710G>A
XR_939923.1:n.563-710G>A
XR_939924.1:n.563-710G>A
XR_939925.1:n.560+796G>A
XR_939926.1:n.560+796G>A
XR_001738688.2:n.2458C>T
XR_244977.4:n.459+796G>A
XR_939920.2:n.474-710G>A
XR_939921.2:n.468-710G>A
XR_939922.2:n.462-710G>A
XR_939923.3:n.462-710G>A
XR_939924.2:n.462-710G>A
XR_939925.2:n.459+796G>A
XR_939926.2:n.459+796G>A
NM_004304.5:c.1528C>T MANE Select NP_004295.2:p.Arg510Trp
Search 100 bp 5'
Search 100 bp 3'