Canonical Allele Identifier: CA187834

Gene: BARD1

Linked Data

• ClinVar Variation Id: 184114
• ClinVar RCV Id: RCV000163243 ; RCV000686113 ; RCV001721041
• dbSNP Id: rs756165637
• ExAC: 2:215657118 C / T
• gnomAD v2: 2-215657118-C-T
• gnomAD v4: 2-214792394-C-T
• COSMIC: COSM442274 ; COSM1482742
• MyVariant Identifiers: chr2:g.215657118C>T (hg19) ; chr2:g.214792394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792394C>T , CM000664.2:g.214792394C>T	GRCh38
NC_000002.11:g.215657118C>T , CM000664.1:g.215657118C>T	GRCh37
NC_000002.10:g.215365363C>T	NCBI36
NG_012047.2:g.22311G>A
NG_012047.3:g.22318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.267G>A MANE Select	ENSP00000260947.4:p.Pro89=
ENST00000421162.2:c.215+4667G>A	ENSP00000392245.2:n.215+4667G>A
ENST00000613192.2:c.158+17018G>A	ENSP00000483275.2:n.158+17018G>A
ENST00000613374.5:c.158+17018G>A	ENSP00000484464.1:n.158+17018G>A
ENST00000613706.5:c.267G>A	ENSP00000484976.2:p.Pro89=
ENST00000617164.5:c.210G>A	ENSP00000480470.1:p.Pro70=
ENST00000619009.5:c.267G>A	ENSP00000482293.1:p.Pro89=
ENST00000650978.1:c.109G>A
ENST00000260947.8:c.267G>A	ENSP00000260947.4:p.Pro89=
ENST00000421162.1:c.215+4667G>A	ENSP00000392245.1:n.215+4667G>A
ENST00000455743.5:c.215+4667G>A	ENSP00000412186.1:n.215+4667G>A
ENST00000471787.1:n.260-10885G>A
ENST00000613192.1:c.73+17018G>A	ENSP00000483275.1:n.73+17018G>A
ENST00000613374.4:c.158+17018G>A	ENSP00000484464.1:n.158+17018G>A
ENST00000613706.4:c.215+4667G>A	ENSP00000484976.1:n.215+4667G>A
ENST00000617164.4:c.210G>A	ENSP00000480470.1:p.Pro70=
ENST00000619009.4:c.267G>A	ENSP00000482293.1:p.Pro89=
ENST00000620057.4:c.267G>A	ENSP00000481988.1:p.Pro89=
NM_000465.3:c.267G>A	NP_000456.2:p.Pro89=
NM_001282543.1:c.210G>A	NP_001269472.1:p.Pro70=
NM_001282545.1:c.215+4667G>A	NP_001269474.1:n.215+4667G>A
NM_001282548.1:c.158+17018G>A	NP_001269477.1:n.158+17018G>A
NM_001282549.1:c.267G>A	NP_001269478.1:p.Pro89=
NR_104212.1:n.357+4667G>A
NR_104215.1:n.301-10885G>A
NR_104216.1:n.409G>A
XM_011511567.1:c.213G>A	XP_011509869.1:p.Pro71=
XM_011511568.1:c.267G>A	XP_011509870.1:p.Pro89=
XM_017004613.1:c.366G>A	XP_016860102.1:p.Pro122=
XM_017004614.1:c.366G>A	XP_016860103.1:p.Pro122=
XR_002959322.1:n.457G>A
NM_000465.4:c.267G>A MANE Select	NP_000456.2:p.Pro89=
NM_001282543.2:c.210G>A	NP_001269472.1:p.Pro70=
NM_001282545.2:c.215+4667G>A	NP_001269474.1:n.215+4667G>A
NM_001282548.2:c.158+17018G>A	NP_001269477.1:n.158+17018G>A
NM_001282549.2:c.267G>A	NP_001269478.1:p.Pro89=
NR_104212.2:n.329+4667G>A
NR_104215.2:n.273-10885G>A
NR_104216.2:n.381G>A