Canonical Allele Identifier: CA343254863
Gene: ATP1A2 HGNC NCBI

Linked Data

gnomAD v4: 1-160139645-A-G
MyVariant Identifiers: chr1:g.160109435A>G (hg19) chr1:g.160139645A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139645A>G , CM000663.2:g.160139645A>G GRCh38
NC_000001.10:g.160109435A>G , CM000663.1:g.160109435A>G GRCh37
NC_000001.9:g.158376059A>G NCBI36
NG_008014.1:g.28888A>G , LRG_6:g.28888A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.2846A>G MANE Select ENSP00000354490.3:p.Lys949Arg
ENST00000361216.7:c.2846A>G ENSP00000354490.3:p.Lys949Arg
ENST00000392233.7:c.2846A>G ENSP00000376066.3:p.Lys949Arg
ENST00000447527.1:c.1927A>G
ENST00000463989.1:n.182A>G
NM_000702.3:c.2846A>G NP_000693.1:p.Lys949Arg
NM_000702.4:c.2846A>G MANE Select NP_000693.1:p.Lys949Arg
Search 100 bp 5'
Search 100 bp 3'