Canonical Allele Identifier: CA343255573
Gene: ATP1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.160109506G>T (hg19) chr1:g.160139716G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139716G>T , CM000663.2:g.160139716G>T GRCh38
NC_000001.10:g.160109506G>T , CM000663.1:g.160109506G>T GRCh37
NC_000001.9:g.158376130G>T NCBI36
NG_008014.1:g.28959G>T , LRG_6:g.28959G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.2917G>T MANE Select ENSP00000354490.3:p.Val973Leu
ENST00000361216.7:c.2917G>T ENSP00000354490.3:p.Val973Leu
ENST00000392233.7:c.2917G>T ENSP00000376066.3:p.Val973Leu
ENST00000447527.1:c.1998G>T
ENST00000463989.1:n.253G>T
NM_000702.3:c.2917G>T NP_000693.1:p.Val973Leu
NM_000702.4:c.2917G>T MANE Select NP_000693.1:p.Val973Leu
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