Canonical Allele Identifier: CA31506173
Gene: ATP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs964620266
gnomAD v3: 1-160139826-G-C
gnomAD v4: 1-160139826-G-C
MyVariant Identifiers: chr1:g.160109616G>C (hg19) chr1:g.160139826G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139826G>C , CM000663.2:g.160139826G>C GRCh38
NC_000001.10:g.160109616G>C , CM000663.1:g.160109616G>C GRCh37
NC_000001.9:g.158376240G>C NCBI36
NG_008014.1:g.29069G>C , LRG_6:g.29069G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.2943-67G>C MANE Select ENSP00000354490.3:n.2943-67G>C
ENST00000361216.7:c.2943-67G>C ENSP00000354490.3:n.2943-67G>C
ENST00000392233.7:c.2942+85G>C ENSP00000376066.3:n.2942+85G>C
ENST00000447527.1:c.2024-67G>C
ENST00000463989.1:n.279-67G>C
NM_000702.3:c.2943-67G>C NP_000693.1:n.2943-67G>C
NM_000702.4:c.2943-67G>C MANE Select NP_000693.1:n.2943-67G>C
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