Canonical Allele Identifier: CA471516997
Gene: HABP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.115348074T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588315T>C , CM000672.2:g.113588315T>C GRCh38
NC_000010.10:g.115348074T>C , CM000672.1:g.115348074T>C GRCh37
NC_000010.9:g.115338064T>C NCBI36
NG_008956.1:g.40297T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.1629T>C MANE Select ENSP00000277903.4:p.Val543=
ENST00000351270.3:c.1629T>C ENSP00000277903.4:p.Val543=
ENST00000542051.5:c.1551T>C ENSP00000443283.1:p.Val517=
NM_001177660.1:c.1551T>C NP_001171131.1:p.Val517=
NM_004132.3:c.1629T>C NP_004123.1:p.Val543=
NM_001177660.2:c.1551T>C NP_001171131.1:p.Val517=
NM_004132.4:c.1629T>C NP_004123.1:p.Val543=
NM_004132.5:c.1629T>C MANE Select NP_004123.1:p.Val543=
NM_001177660.3:c.1551T>C NP_001171131.1:p.Val517=