Canonical Allele Identifier: CA188753

Gene: BARD1

Linked Data

• ClinVar Variation Id: 184366
• ClinVar RCV Id: RCV000163607 ; RCV001421095
• dbSNP Id: rs532444144
• ExAC: 2:215617261 C / T
• gnomAD v2: 2-215617261-C-T
• MyVariant Identifiers: chr2:g.215617261C>T (hg19) ; chr2:g.214752537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752537C>T , CM000664.2:g.214752537C>T	GRCh38
NC_000002.11:g.215617261C>T , CM000664.1:g.215617261C>T	GRCh37
NC_000002.10:g.215325506C>T	NCBI36
NG_012047.2:g.62168G>A
NG_012047.3:g.62175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1587G>A MANE Select	ENSP00000260947.4:p.Arg529=
ENST00000421162.2:c.234G>A	ENSP00000392245.2:p.Arg78=
ENST00000613192.2:c.159-22029G>A	ENSP00000483275.2:n.159-22029G>A
ENST00000613374.5:c.177G>A	ENSP00000484464.1:p.Arg59=
ENST00000613706.5:c.1179G>A	ENSP00000484976.2:p.Arg393=
ENST00000617164.5:c.1530G>A	ENSP00000480470.1:p.Arg510=
ENST00000619009.5:c.365-22029G>A	ENSP00000482293.1:n.365-22029G>A
ENST00000650978.1:c.2962G>A
ENST00000260947.8:c.1587G>A	ENSP00000260947.4:p.Arg529=
ENST00000421162.1:c.234G>A	ENSP00000392245.1:p.Arg78=
ENST00000455743.5:c.*1207G>A	ENSP00000412186.1:n.*1207G>A
ENST00000613192.1:c.74-22029G>A	ENSP00000483275.1:n.74-22029G>A
ENST00000613374.4:c.177G>A	ENSP00000484464.1:p.Arg59=
ENST00000613706.4:c.234G>A	ENSP00000484976.1:p.Arg78=
ENST00000617164.4:c.1530G>A	ENSP00000480470.1:p.Arg510=
ENST00000619009.4:c.365-22029G>A	ENSP00000482293.1:n.365-22029G>A
ENST00000620057.4:c.*253G>A	ENSP00000481988.1:n.*253G>A
NM_000465.3:c.1587G>A	NP_000456.2:p.Arg529=
NM_001282543.1:c.1530G>A	NP_001269472.1:p.Arg510=
NM_001282545.1:c.234G>A	NP_001269474.1:p.Arg78=
NM_001282548.1:c.177G>A	NP_001269477.1:p.Arg59=
NM_001282549.1:c.365-22029G>A	NP_001269478.1:n.365-22029G>A
NR_104212.1:n.1580G>A
NR_104215.1:n.1523G>A
NR_104216.1:n.779G>A
XM_011511567.1:c.1533G>A	XP_011509869.1:p.Arg511=
XM_011511568.1:c.1587G>A	XP_011509870.1:p.Arg529=
XM_017004613.1:c.1686G>A	XP_016860102.1:p.Arg562=
XM_017004614.1:c.1686G>A	XP_016860103.1:p.Arg562=
XR_002959322.1:n.1777G>A
NM_000465.4:c.1587G>A MANE Select	NP_000456.2:p.Arg529=
NM_001282543.2:c.1530G>A	NP_001269472.1:p.Arg510=
NM_001282545.2:c.234G>A	NP_001269474.1:p.Arg78=
NM_001282548.2:c.177G>A	NP_001269477.1:p.Arg59=
NM_001282549.2:c.365-22029G>A	NP_001269478.1:n.365-22029G>A
NR_104212.2:n.1552G>A
NR_104215.2:n.1495G>A
NR_104216.2:n.751G>A