Canonical Allele Identifier: CA16610758
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29920584C>T
GRCh37 chr2:g.30143450C>T
Revel Score:
ENST00000389048 (MANE Select) 0.026
ENST00000431873 0.026
gnomAD v3:
2:29920584 C / T
gnomAD v4:
chr2-29920584-C-T
Joint Max Group AF 0.00000363 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000265 (NFE)
ClinVar RCV:
RCV000458240
ClinVar Variation:
404337
dbSNP:
1060500214
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29920584C>T , CM000664.2:g.29920584C>T GRCh38
NC_000002.11:g.30143450C>T , CM000664.1:g.30143450C>T GRCh37
NC_000002.10:g.29996954C>T NCBI36
NG_009445.1:g.5983G>A , LRG_488:g.5983G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.76G>A MANE Select ENSP00000373700.3:p.Gly26Ser
ENST00000389048.7:c.76G>A ENSP00000373700.3:p.Gly26Ser
NM_004304.4:c.76G>A NP_004295.2:p.Gly26Ser
XR_001738688.2:n.1006G>A
NM_004304.5:c.76G>A MANE Select NP_004295.2:p.Gly26Ser
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