Canonical Allele Identifier: CA346589589
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29919999C>T
GRCh37 chr2:g.30142865C>T
Revel Score:
ENST00000389048 (MANE Select) 0.082
ENST00000431873 0.082
ClinVar RCV:
RCV001219707
ClinVar Variation:
948451
dbSNP:
199584443
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29919999C>T , CM000664.2:g.29919999C>T GRCh38
NC_000002.11:g.30142865C>T , CM000664.1:g.30142865C>T GRCh37
NC_000002.10:g.29996369C>T NCBI36
NG_009445.1:g.6568G>A , LRG_488:g.6568G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.661G>A MANE Select ENSP00000373700.3:p.Gly221Arg
ENST00000389048.7:c.661G>A ENSP00000373700.3:p.Gly221Arg
NM_004304.4:c.661G>A NP_004295.2:p.Gly221Arg
XR_001738688.2:n.1591G>A
NM_004304.5:c.661G>A MANE Select NP_004295.2:p.Gly221Arg
Search 100 bp 5'
Search 100 bp 3'