Canonical Allele Identifier: CA313298
Gene: ATP1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.160134547A>G
GRCh37 chr1:g.160104337A>G
Revel Score:
ENST00000361216 (MANE Select) 0.667
ENST00000392233 0.667
ENST00000435866 0.667
gnomAD v2:
1:160104337 A / G
gnomAD v3:
1:160134547 A / G
gnomAD v4:
chr1-160134547-A-G
Joint Max Group AF 0.00000803 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV000186795
RCV001053867
ClinVar Variation:
204893
dbSNP:
201977531
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160134547A>G , CM000663.2:g.160134547A>G GRCh38
NC_000001.10:g.160104337A>G , CM000663.1:g.160104337A>G GRCh37
NC_000001.9:g.158370961A>G NCBI36
NG_008014.1:g.23790A>G , LRG_6:g.23790A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1891A>G MANE Select ENSP00000354490.3:p.Ile631Val
ENST00000361216.7:c.1891A>G ENSP00000354490.3:p.Ile631Val
ENST00000392233.7:c.1891A>G ENSP00000376066.3:p.Ile631Val
ENST00000447527.1:c.1023A>G
ENST00000472488.5:n.1994A>G
NM_000702.3:c.1891A>G NP_000693.1:p.Ile631Val
NM_000702.4:c.1891A>G MANE Select NP_000693.1:p.Ile631Val
Search 100 bp 5'
Search 100 bp 3'