Canonical Allele Identifier: CA378422182

Gene: HABP2

Linked Data

• dbSNP Id: rs1845699778
• gnomAD v4: 10-113588285-T-G
• MyVariant Identifiers: chr10:g.115348044T>G (hg19) ; chr10:g.113588285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588285T>G , CM000672.2:g.113588285T>G	GRCh38
NC_000010.10:g.115348044T>G , CM000672.1:g.115348044T>G	GRCh37
NC_000010.9:g.115338034T>G	NCBI36
NG_008956.1:g.40267T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.1599T>G MANE Select	ENSP00000277903.4:p.Cys533Trp
ENST00000351270.3:c.1599T>G	ENSP00000277903.4:p.Cys533Trp
ENST00000542051.5:c.1521T>G	ENSP00000443283.1:p.Cys507Trp
NM_001177660.1:c.1521T>G	NP_001171131.1:p.Cys507Trp
NM_004132.3:c.1599T>G	NP_004123.1:p.Cys533Trp
NM_001177660.2:c.1521T>G	NP_001171131.1:p.Cys507Trp
NM_004132.4:c.1599T>G	NP_004123.1:p.Cys533Trp
NM_004132.5:c.1599T>G MANE Select	NP_004123.1:p.Cys533Trp
NM_001177660.3:c.1521T>G	NP_001171131.1:p.Cys507Trp