Canonical Allele Identifier: CA431391875

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1158905
• ClinVar RCV Id: RCV001502493
• dbSNP Id: rs2106108465
• gnomAD v4: 2-214780728-G-A
• MyVariant Identifiers: chr2:g.215645452G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780728G>A , CM000664.2:g.214780728G>A	GRCh38
NC_000002.11:g.215645452G>A , CM000664.1:g.215645452G>A	GRCh37
NC_000002.10:g.215353697G>A	NCBI36
NG_012047.2:g.33977C>T
NG_012047.3:g.33984C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1146C>T MANE Select	ENSP00000260947.4:p.Asn382=
ENST00000421162.2:c.215+16333C>T	ENSP00000392245.2:n.215+16333C>T
ENST00000613192.2:c.158+28684C>T	ENSP00000483275.2:n.158+28684C>T
ENST00000613374.5:c.159-28173C>T	ENSP00000484464.1:n.159-28173C>T
ENST00000613706.5:c.906+240C>T	ENSP00000484976.2:n.906+240C>T
ENST00000617164.5:c.1089C>T	ENSP00000480470.1:p.Asn363=
ENST00000619009.5:c.364+11569C>T	ENSP00000482293.1:n.364+11569C>T
ENST00000650978.1:c.988C>T
ENST00000260947.8:c.1146C>T	ENSP00000260947.4:p.Asn382=
ENST00000421162.1:c.215+16333C>T	ENSP00000392245.1:n.215+16333C>T
ENST00000455743.5:c.*766C>T	ENSP00000412186.1:n.*766C>T
ENST00000613192.1:c.73+28684C>T	ENSP00000483275.1:n.73+28684C>T
ENST00000613374.4:c.159-28173C>T	ENSP00000484464.1:n.159-28173C>T
ENST00000613706.4:c.215+16333C>T	ENSP00000484976.1:n.215+16333C>T
ENST00000617164.4:c.1089C>T	ENSP00000480470.1:p.Asn363=
ENST00000619009.4:c.364+11569C>T	ENSP00000482293.1:n.364+11569C>T
ENST00000620057.4:c.365-11416C>T	ENSP00000481988.1:n.365-11416C>T
NM_000465.3:c.1146C>T	NP_000456.2:p.Asn382=
NM_001282543.1:c.1089C>T	NP_001269472.1:p.Asn363=
NM_001282545.1:c.215+16333C>T	NP_001269474.1:n.215+16333C>T
NM_001282548.1:c.159-28173C>T	NP_001269477.1:n.159-28173C>T
NM_001282549.1:c.364+11569C>T	NP_001269478.1:n.364+11569C>T
NR_104212.1:n.1139C>T
NR_104215.1:n.1082C>T
NR_104216.1:n.507-11416C>T
XM_011511567.1:c.1092C>T	XP_011509869.1:p.Asn364=
XM_011511568.1:c.1146C>T	XP_011509870.1:p.Asn382=
XM_017004613.1:c.1245C>T	XP_016860102.1:p.Asn415=
XM_017004614.1:c.1245C>T	XP_016860103.1:p.Asn415=
XR_002959322.1:n.1336C>T
NM_000465.4:c.1146C>T MANE Select	NP_000456.2:p.Asn382=
NM_001282543.2:c.1089C>T	NP_001269472.1:p.Asn363=
NM_001282545.2:c.215+16333C>T	NP_001269474.1:n.215+16333C>T
NM_001282548.2:c.159-28173C>T	NP_001269477.1:n.159-28173C>T
NM_001282549.2:c.364+11569C>T	NP_001269478.1:n.364+11569C>T
NR_104212.2:n.1111C>T
NR_104215.2:n.1054C>T
NR_104216.2:n.479-11416C>T