Canonical Allele Identifier: CA214443987

Gene: HABP2

Linked Data

• dbSNP Id: rs1017000614
• gnomAD v3: 10-113588541-C-T
• gnomAD v4: 10-113588541-C-T
• MyVariant Identifiers: chr10:g.115348300C>T (hg19) ; chr10:g.113588541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588541C>T , CM000672.2:g.113588541C>T	GRCh38
NC_000010.10:g.115348300C>T , CM000672.1:g.115348300C>T	GRCh37
NC_000010.9:g.115338290C>T	NCBI36
NG_008956.1:g.40523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.*172C>T MANE Select	ENSP00000277903.4:n.*172C>T
ENST00000351270.3:c.*172C>T	ENSP00000277903.4:n.*172C>T
ENST00000542051.5:c.*172C>T	ENSP00000443283.1:n.*172C>T
NM_001177660.1:c.*172C>T	NP_001171131.1:n.*172C>T
NM_004132.3:c.*172C>T	NP_004123.1:n.*172C>T
NM_001177660.2:c.*172C>T	NP_001171131.1:n.*172C>T
NM_004132.4:c.*172C>T	NP_004123.1:n.*172C>T
NM_004132.5:c.*172C>T MANE Select	NP_004123.1:n.*172C>T
NM_001177660.3:c.*172C>T	NP_001171131.1:n.*172C>T