Canonical Allele Identifier: CA378421961

Gene: HABP2

Linked Data

• gnomAD v4: 10-113588210-C-A
• MyVariant Identifiers: chr10:g.115347969C>A (hg19) ; chr10:g.113588210C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588210C>A , CM000672.2:g.113588210C>A	GRCh38
NC_000010.10:g.115347969C>A , CM000672.1:g.115347969C>A	GRCh37
NC_000010.9:g.115337959C>A	NCBI36
NG_008956.1:g.40192C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.1524C>A MANE Select	ENSP00000277903.4:p.Asp508Glu
ENST00000351270.3:c.1524C>A	ENSP00000277903.4:p.Asp508Glu
ENST00000542051.5:c.1446C>A	ENSP00000443283.1:p.Asp482Glu
NM_001177660.1:c.1446C>A	NP_001171131.1:p.Asp482Glu
NM_004132.3:c.1524C>A	NP_004123.1:p.Asp508Glu
NM_001177660.2:c.1446C>A	NP_001171131.1:p.Asp482Glu
NM_004132.4:c.1524C>A	NP_004123.1:p.Asp508Glu
NM_004132.5:c.1524C>A MANE Select	NP_004123.1:p.Asp508Glu
NM_001177660.3:c.1446C>A	NP_001171131.1:p.Asp482Glu