Canonical Allele Identifier: CA526592761
Gene: ATP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1205540981
gnomAD v2: 1-160100421-C-CT
gnomAD v3: 1-160130631-C-CT
gnomAD v4: 1-160130631-C-CT
MyVariant Identifiers: chr1:g.160100421_160100422insT (hg19) chr1:g.160130631_160130632insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130632dup , CM000663.2:g.160130632dup GRCh38
NC_000001.10:g.160100422dup , CM000663.1:g.160100422dup GRCh37
NC_000001.9:g.158367046dup NCBI36
NG_008014.1:g.19875dup , LRG_6:g.19875dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1827+35dup MANE Select ENSP00000354490.3:n.1827+35dup
ENST00000361216.7:c.1827+35dup ENSP00000354490.3:n.1827+35dup
ENST00000392233.7:c.1827+35dup ENSP00000376066.3:n.1827+35dup
ENST00000447527.1:c.959+35dup
ENST00000472488.5:n.1930+35dup
NM_000702.3:c.1827+35dup NP_000693.1:n.1827+35dup
NM_000702.4:c.1827+35dup MANE Select NP_000693.1:n.1827+35dup
Search 100 bp 5'
Search 100 bp 3'