Canonical Allele Identifier: CA431392482

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2812826
• ClinVar RCV Id: RCV003607866
• MyVariant Identifiers: chr2:g.215593433C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728709C>G , CM000664.2:g.214728709C>G	GRCh38
NC_000002.11:g.215593433C>G , CM000664.1:g.215593433C>G	GRCh37
NC_000002.10:g.215301678C>G	NCBI36
NG_012047.2:g.85996G>C
NG_012047.3:g.86003G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2301G>C MANE Select	ENSP00000260947.4:p.Val767=
ENST00000421162.2:c.948G>C	ENSP00000392245.2:p.Val316=
ENST00000613192.2:c.*364G>C	ENSP00000483275.2:n.*364G>C
ENST00000613374.5:c.891G>C	ENSP00000484464.1:p.Val297=
ENST00000613706.5:c.1893G>C	ENSP00000484976.2:p.Val631=
ENST00000617164.5:c.2244G>C	ENSP00000480470.1:p.Val748=
ENST00000619009.5:c.762G>C	ENSP00000482293.1:p.Val254=
ENST00000650978.1:c.3676G>C
ENST00000260947.8:c.2301G>C	ENSP00000260947.4:p.Val767=
ENST00000432456.5:c.444G>C
ENST00000455743.5:c.*1921G>C	ENSP00000412186.1:n.*1921G>C
ENST00000471590.5:n.636G>C
ENST00000613192.1:c.471G>C	ENSP00000483275.1:p.Val157=
ENST00000613374.4:c.891G>C	ENSP00000484464.1:p.Val297=
ENST00000613706.4:c.948G>C	ENSP00000484976.1:p.Val316=
ENST00000617164.4:c.2244G>C	ENSP00000480470.1:p.Val748=
ENST00000619009.4:c.762G>C	ENSP00000482293.1:p.Val254=
ENST00000620057.4:c.*967G>C	ENSP00000481988.1:n.*967G>C
NM_000465.3:c.2301G>C	NP_000456.2:p.Val767=
NM_001282543.1:c.2244G>C	NP_001269472.1:p.Val748=
NM_001282545.1:c.948G>C	NP_001269474.1:p.Val316=
NM_001282548.1:c.891G>C	NP_001269477.1:p.Val297=
NM_001282549.1:c.762G>C	NP_001269478.1:p.Val254=
NR_104212.1:n.2294G>C
NR_104215.1:n.2237G>C
NR_104216.1:n.1493G>C
XM_011511567.1:c.2247G>C	XP_011509869.1:p.Val749=
XM_017004613.1:c.2400G>C	XP_016860102.1:p.Val800=
XR_002959322.1:n.2667G>C
NM_000465.4:c.2301G>C MANE Select	NP_000456.2:p.Val767=
NM_001282543.2:c.2244G>C	NP_001269472.1:p.Val748=
NM_001282545.2:c.948G>C	NP_001269474.1:p.Val316=
NM_001282548.2:c.891G>C	NP_001269477.1:p.Val297=
NM_001282549.2:c.762G>C	NP_001269478.1:p.Val254=
NR_104212.2:n.2266G>C
NR_104215.2:n.2209G>C
NR_104216.2:n.1465G>C