Canonical Allele Identifier: CA378422267

Gene: HABP2

Linked Data

• MyVariant Identifiers: chr10:g.115348060G>C (hg19) ; chr10:g.113588301G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588301G>C , CM000672.2:g.113588301G>C	GRCh38
NC_000010.10:g.115348060G>C , CM000672.1:g.115348060G>C	GRCh37
NC_000010.9:g.115338050G>C	NCBI36
NG_008956.1:g.40283G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.1615G>C MANE Select	ENSP00000277903.4:p.Val539Leu
ENST00000351270.3:c.1615G>C	ENSP00000277903.4:p.Val539Leu
ENST00000542051.5:c.1537G>C	ENSP00000443283.1:p.Val513Leu
NM_001177660.1:c.1537G>C	NP_001171131.1:p.Val513Leu
NM_004132.3:c.1615G>C	NP_004123.1:p.Val539Leu
NM_001177660.2:c.1537G>C	NP_001171131.1:p.Val513Leu
NM_004132.4:c.1615G>C	NP_004123.1:p.Val539Leu
NM_004132.5:c.1615G>C MANE Select	NP_004123.1:p.Val539Leu
NM_001177660.3:c.1537G>C	NP_001171131.1:p.Val513Leu