Canonical Allele Identifier: CA431145313

Gene: BARD1

Linked Data

• ClinVar Variation Id: 919331
• ClinVar RCV Id: RCV001177462
• dbSNP Id: rs1470209504
• MyVariant Identifiers: chr2:g.215609867A>G (hg19) ; chr2:g.214745143A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745143A>G , CM000664.2:g.214745143A>G	GRCh38
NC_000002.11:g.215609867A>G , CM000664.1:g.215609867A>G	GRCh37
NC_000002.10:g.215318112A>G	NCBI36
NG_012047.2:g.69562T>C
NG_012047.3:g.69569T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1827T>C MANE Select	ENSP00000260947.4:p.Val609=
ENST00000421162.2:c.474T>C	ENSP00000392245.2:p.Val158=
ENST00000613192.2:c.159-14635T>C	ENSP00000483275.2:n.159-14635T>C
ENST00000613374.5:c.417T>C	ENSP00000484464.1:p.Val139=
ENST00000613706.5:c.1419T>C	ENSP00000484976.2:p.Val473=
ENST00000617164.5:c.1770T>C	ENSP00000480470.1:p.Val590=
ENST00000619009.5:c.365-14635T>C	ENSP00000482293.1:n.365-14635T>C
ENST00000650978.1:c.3202T>C
ENST00000260947.8:c.1827T>C	ENSP00000260947.4:p.Val609=
ENST00000421162.1:c.474T>C	ENSP00000392245.1:p.Val158=
ENST00000455743.5:c.*1447T>C	ENSP00000412186.1:n.*1447T>C
ENST00000613192.1:c.74-14635T>C	ENSP00000483275.1:n.74-14635T>C
ENST00000613374.4:c.417T>C	ENSP00000484464.1:p.Val139=
ENST00000613706.4:c.474T>C	ENSP00000484976.1:p.Val158=
ENST00000617164.4:c.1770T>C	ENSP00000480470.1:p.Val590=
ENST00000619009.4:c.365-14635T>C	ENSP00000482293.1:n.365-14635T>C
ENST00000620057.4:c.*493T>C	ENSP00000481988.1:n.*493T>C
NM_000465.3:c.1827T>C	NP_000456.2:p.Val609=
NM_001282543.1:c.1770T>C	NP_001269472.1:p.Val590=
NM_001282545.1:c.474T>C	NP_001269474.1:p.Val158=
NM_001282548.1:c.417T>C	NP_001269477.1:p.Val139=
NM_001282549.1:c.365-14635T>C	NP_001269478.1:n.365-14635T>C
NR_104212.1:n.1820T>C
NR_104215.1:n.1763T>C
NR_104216.1:n.1019T>C
XM_011511567.1:c.1773T>C	XP_011509869.1:p.Val591=
XM_011511568.1:c.1827T>C	XP_011509870.1:p.Val609=
XM_017004613.1:c.1926T>C	XP_016860102.1:p.Val642=
XM_017004614.1:c.1926T>C	XP_016860103.1:p.Val642=
XR_002959322.1:n.2017T>C
NM_000465.4:c.1827T>C MANE Select	NP_000456.2:p.Val609=
NM_001282543.2:c.1770T>C	NP_001269472.1:p.Val590=
NM_001282545.2:c.474T>C	NP_001269474.1:p.Val158=
NM_001282548.2:c.417T>C	NP_001269477.1:p.Val139=
NM_001282549.2:c.365-14635T>C	NP_001269478.1:n.365-14635T>C
NR_104212.2:n.1792T>C
NR_104215.2:n.1735T>C
NR_104216.2:n.991T>C