Canonical Allele Identifier: CA378422208

Gene: HABP2

Linked Data

• gnomAD v4: 10-113588291-G-T
• MyVariant Identifiers: chr10:g.115348050G>T (hg19) ; chr10:g.113588291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588291G>T , CM000672.2:g.113588291G>T	GRCh38
NC_000010.10:g.115348050G>T , CM000672.1:g.115348050G>T	GRCh37
NC_000010.9:g.115338040G>T	NCBI36
NG_008956.1:g.40273G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000351270.4:c.1605G>T MANE Select	ENSP00000277903.4:p.Lys535Asn
ENST00000351270.3:c.1605G>T	ENSP00000277903.4:p.Lys535Asn
ENST00000542051.5:c.1527G>T	ENSP00000443283.1:p.Lys509Asn
NM_001177660.1:c.1527G>T	NP_001171131.1:p.Lys509Asn
NM_004132.3:c.1605G>T	NP_004123.1:p.Lys535Asn
NM_001177660.2:c.1527G>T	NP_001171131.1:p.Lys509Asn
NM_004132.4:c.1605G>T	NP_004123.1:p.Lys535Asn
NM_004132.5:c.1605G>T MANE Select	NP_004123.1:p.Lys535Asn
NM_001177660.3:c.1527G>T	NP_001171131.1:p.Lys509Asn