Canonical Allele Identifier: CA343240212
Gene: ATP1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.160129007C>G
GRCh37 chr1:g.160098797C>G
Revel Score:
ENST00000447527 0.500
ENST00000361216 (MANE Select) 0.615
ENST00000392233 0.615
ENST00000435866 0.615
ClinVar Allele:
1772748
ClinVar RCV:
RCV002300403
ClinVar Variation:
1721414
dbSNP:
121918618
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160129007C>G , CM000663.2:g.160129007C>G GRCh38
NC_000001.10:g.160098797C>G , CM000663.1:g.160098797C>G GRCh37
NC_000001.9:g.158365421C>G NCBI36
NG_008014.1:g.18250C>G , LRG_6:g.18250C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1244C>G MANE Select ENSP00000354490.3:p.Thr415Arg
ENST00000361216.7:c.1244C>G ENSP00000354490.3:p.Thr415Arg
ENST00000392233.7:c.1244C>G ENSP00000376066.3:p.Thr415Arg
ENST00000447527.1:c.376C>G
ENST00000472488.5:n.1347C>G
NM_000702.3:c.1244C>G NP_000693.1:p.Thr415Arg
NM_000702.4:c.1244C>G MANE Select NP_000693.1:p.Thr415Arg
Search 100 bp 5'
Search 100 bp 3'