Canonical Allele Identifier: CA775164055

Gene: ATP1B2

Linked Data

• dbSNP Id: rs1435891035
• MyVariant Identifiers: chr17:g.7552133_7552134insGAGTC (hg19) ; chr17:g.7648815_7648816insGAGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7648816_7648820dup , CM000679.2:g.7648816_7648820dup	GRCh38
NC_000017.10:g.7552134_7552138dup , CM000679.1:g.7552134_7552138dup	GRCh37
NC_000017.9:g.7492859_7492863dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577026.5:c.-6+2115_-6+2119dup	ENSP00000459145.1:n.-6+2115_-6+2119dup
NM_001303263.1:c.-6+2115_-6+2119dup	NP_001290192.1:n.-6+2115_-6+2119dup
NM_001303263.2:c.-6+2115_-6+2119dup	NP_001290192.1:n.-6+2115_-6+2119dup