Canonical Allele Identifier: CA285518237

Gene: ATP2C2

Linked Data

• dbSNP Id: rs1047169932
• MyVariant Identifiers: chr16:g.84446419C>G (hg19) ; chr16:g.84412813C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84412813C>G , CM000678.2:g.84412813C>G	GRCh38
NC_000016.9:g.84446419C>G , CM000678.1:g.84446419C>G	GRCh37
NC_000016.8:g.83003920C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262429.9:c.515+2048C>G MANE Select	ENSP00000262429.4:n.515+2048C>G
ENST00000262429.8:c.515+2048C>G	ENSP00000262429.4:n.515+2048C>G
ENST00000416219.6:c.515+2048C>G	ENSP00000397925.2:n.515+2048C>G
ENST00000420010.6:n.188+2210C>G
ENST00000565546.5:n.250+2048C>G
ENST00000565631.5:n.1006+2048C>G
ENST00000565927.1:n.504+2048C>G
ENST00000569207.5:c.237+2048C>G
NM_001286527.2:c.515+2048C>G	NP_001273456.2:n.515+2048C>G
NM_001291454.1:c.62+2210C>G	NP_001278383.1:n.62+2210C>G
NM_014861.3:c.515+2048C>G	NP_055676.3:n.515+2048C>G
XM_011523486.1:c.446+2048C>G	XP_011521788.1:n.446+2048C>G
XM_011523486.2:c.446+2048C>G	XP_011521788.1:n.446+2048C>G
XR_001752045.1:n.608+2048C>G
NM_001286527.3:c.515+2048C>G	NP_001273456.2:n.515+2048C>G
NM_001291454.2:c.62+2210C>G	NP_001278383.1:n.62+2210C>G
NM_014861.4:c.515+2048C>G MANE Select	NP_055676.3:n.515+2048C>G