Canonical Allele Identifier: CA873890
Gene: PRKAA2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.56704418G>A
GRCh37 chr1:g.57170091G>A
gnomAD v2:
1:57170091 G / A
gnomAD v3:
1:56704418 G / A
gnomAD v4:
chr1-56704418-G-A
Joint Max Group AF 0.0000582 (MID)
Genomes Max Group AF 0.00002259 (AMR)
Exomes Max Group AF 0.00006094 (MID)
ClinVar RCV:
RCV000940392
ClinVar Variation:
762260
dbSNP:
772663945
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56704418G>A , CM000663.2:g.56704418G>A GRCh38
NC_000001.10:g.57170091G>A , CM000663.1:g.57170091G>A GRCh37
NC_000001.9:g.56942679G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000371244.9:c.1236G>A MANE Select ENSP00000360290.4:p.Pro412=
ENST00000371244.8:c.1236G>A ENSP00000360290.4:p.Pro412=
ENST00000610361.1:c.1236G>A ENSP00000481378.1:p.Pro412=
NM_006252.3:c.1236G>A NP_006243.2:p.Pro412=
XM_017001692.1:c.966G>A XP_016857181.1:p.Pro322=
XM_017001693.1:c.966G>A XP_016857182.1:p.Pro322=
XM_017001694.1:c.966G>A XP_016857183.1:p.Pro322=
XR_001737290.1:n.1307G>A
NM_006252.4:c.1236G>A MANE Select NP_006243.2:p.Pro412=
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Search 100 bp 3'