Canonical Allele Identifier: CA2648643698
Gene: ATP1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139770_160139772del , CM000663.2:g.160139770_160139772del GRCh38
NC_000001.10:g.160109560_160109562del , CM000663.1:g.160109560_160109562del GRCh37
NC_000001.9:g.158376184_158376186del NCBI36
NG_008014.1:g.29013_29015del , LRG_6:g.29013_29015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.2942+29_2942+31del MANE Select ENSP00000354490.3:n.2942+29_2942+31del
ENST00000361216.7:c.2942+29_2942+31del ENSP00000354490.3:n.2942+29_2942+31del
ENST00000392233.7:c.2942+29_2942+31del ENSP00000376066.3:n.2942+29_2942+31del
ENST00000447527.1:c.2023+29_2023+31del
ENST00000463989.1:n.278+29_278+31del
NM_000702.3:c.2942+29_2942+31del NP_000693.1:n.2942+29_2942+31del
NM_000702.4:c.2942+29_2942+31del MANE Select NP_000693.1:n.2942+29_2942+31del