Canonical Allele Identifier: CA431392376

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1789600
• ClinVar RCV Id: RCV002457578 ; RCV003500791
• MyVariant Identifiers: chr2:g.215593412A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728688A>G , CM000664.2:g.214728688A>G	GRCh38
NC_000002.11:g.215593412A>G , CM000664.1:g.215593412A>G	GRCh37
NC_000002.10:g.215301657A>G	NCBI36
NG_012047.2:g.86017T>C
NG_012047.3:g.86024T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2322T>C MANE Select	ENSP00000260947.4:p.Pro774=
ENST00000421162.2:c.969T>C	ENSP00000392245.2:p.Pro323=
ENST00000613192.2:c.*385T>C	ENSP00000483275.2:n.*385T>C
ENST00000613374.5:c.912T>C	ENSP00000484464.1:p.Pro304=
ENST00000613706.5:c.1914T>C	ENSP00000484976.2:p.Pro638=
ENST00000617164.5:c.2265T>C	ENSP00000480470.1:p.Pro755=
ENST00000619009.5:c.783T>C	ENSP00000482293.1:p.Pro261=
ENST00000650978.1:c.3697T>C
ENST00000260947.8:c.2322T>C	ENSP00000260947.4:p.Pro774=
ENST00000432456.5:c.465T>C
ENST00000471590.5:n.657T>C
ENST00000613192.1:c.492T>C	ENSP00000483275.1:p.Pro164=
ENST00000613374.4:c.912T>C	ENSP00000484464.1:p.Pro304=
ENST00000613706.4:c.969T>C	ENSP00000484976.1:p.Pro323=
ENST00000617164.4:c.2265T>C	ENSP00000480470.1:p.Pro755=
ENST00000619009.4:c.783T>C	ENSP00000482293.1:p.Pro261=
ENST00000620057.4:c.*988T>C	ENSP00000481988.1:n.*988T>C
NM_000465.3:c.2322T>C	NP_000456.2:p.Pro774=
NM_001282543.1:c.2265T>C	NP_001269472.1:p.Pro755=
NM_001282545.1:c.969T>C	NP_001269474.1:p.Pro323=
NM_001282548.1:c.912T>C	NP_001269477.1:p.Pro304=
NM_001282549.1:c.783T>C	NP_001269478.1:p.Pro261=
NR_104212.1:n.2315T>C
NR_104215.1:n.2258T>C
NR_104216.1:n.1514T>C
XM_011511567.1:c.2268T>C	XP_011509869.1:p.Pro756=
XM_017004613.1:c.2421T>C	XP_016860102.1:p.Pro807=
XR_002959322.1:n.2688T>C
NM_000465.4:c.2322T>C MANE Select	NP_000456.2:p.Pro774=
NM_001282543.2:c.2265T>C	NP_001269472.1:p.Pro755=
NM_001282545.2:c.969T>C	NP_001269474.1:p.Pro323=
NM_001282548.2:c.912T>C	NP_001269477.1:p.Pro304=
NM_001282549.2:c.783T>C	NP_001269478.1:p.Pro261=
NR_104212.2:n.2287T>C
NR_104215.2:n.2230T>C
NR_104216.2:n.1486T>C