Canonical Allele Identifier: CA378422200

Gene: HABP2

Linked Data

• gnomAD v4: 10-113588290-A-C
• MyVariant Identifiers: chr10:g.115348049A>C (hg19) ; chr10:g.113588290A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588290A>C , CM000672.2:g.113588290A>C	GRCh38
NC_000010.10:g.115348049A>C , CM000672.1:g.115348049A>C	GRCh37
NC_000010.9:g.115338039A>C	NCBI36
NG_008956.1:g.40272A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000351270.4:c.1604A>C MANE Select	ENSP00000277903.4:p.Lys535Thr
ENST00000351270.3:c.1604A>C	ENSP00000277903.4:p.Lys535Thr
ENST00000542051.5:c.1526A>C	ENSP00000443283.1:p.Lys509Thr
NM_001177660.1:c.1526A>C	NP_001171131.1:p.Lys509Thr
NM_004132.3:c.1604A>C	NP_004123.1:p.Lys535Thr
NM_001177660.2:c.1526A>C	NP_001171131.1:p.Lys509Thr
NM_004132.4:c.1604A>C	NP_004123.1:p.Lys535Thr
NM_004132.5:c.1604A>C MANE Select	NP_004123.1:p.Lys535Thr
NM_001177660.3:c.1526A>C	NP_001171131.1:p.Lys509Thr