Canonical Allele Identifier: CA350450833

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214729009C>G , CM000664.2:g.214729009C>G	GRCh38
NC_000002.11:g.215593733C>G , CM000664.1:g.215593733C>G	GRCh37
NC_000002.10:g.215301978C>G	NCBI36
NG_012047.2:g.85696G>C
NG_012047.3:g.85703G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2002-1G>C MANE Select	ENSP00000260947.4:n.2002-1G>C
ENST00000421162.2:c.649-1G>C	ENSP00000392245.2:n.649-1G>C
ENST00000613192.2:c.*65-1G>C	ENSP00000483275.2:n.*65-1G>C
ENST00000613374.5:c.592-1G>C	ENSP00000484464.1:n.592-1G>C
ENST00000613706.5:c.1594-1G>C	ENSP00000484976.2:n.1594-1G>C
ENST00000617164.5:c.1945-1G>C	ENSP00000480470.1:n.1945-1G>C
ENST00000619009.5:c.463-1G>C	ENSP00000482293.1:n.463-1G>C
ENST00000650978.1:c.3377-1G>C
ENST00000260947.8:c.2002-1G>C	ENSP00000260947.4:n.2002-1G>C
ENST00000432456.5:c.145-1G>C
ENST00000455743.5:c.*1622-1G>C	ENSP00000412186.1:n.*1622-1G>C
ENST00000471590.5:n.337-1G>C
ENST00000613192.1:c.172-1G>C	ENSP00000483275.1:n.172-1G>C
ENST00000613374.4:c.592-1G>C	ENSP00000484464.1:n.592-1G>C
ENST00000613706.4:c.649-1G>C	ENSP00000484976.1:n.649-1G>C
ENST00000617164.4:c.1945-1G>C	ENSP00000480470.1:n.1945-1G>C
ENST00000619009.4:c.463-1G>C	ENSP00000482293.1:n.463-1G>C
ENST00000620057.4:c.*668-1G>C	ENSP00000481988.1:n.*668-1G>C
NM_000465.3:c.2002-1G>C	NP_000456.2:n.2002-1G>C
NM_001282543.1:c.1945-1G>C	NP_001269472.1:n.1945-1G>C
NM_001282545.1:c.649-1G>C	NP_001269474.1:n.649-1G>C
NM_001282548.1:c.592-1G>C	NP_001269477.1:n.592-1G>C
NM_001282549.1:c.463-1G>C	NP_001269478.1:n.463-1G>C
NR_104212.1:n.1995-1G>C
NR_104215.1:n.1938-1G>C
NR_104216.1:n.1194-1G>C
XM_011511567.1:c.1948-1G>C	XP_011509869.1:n.1948-1G>C
XM_017004613.1:c.2101-1G>C	XP_016860102.1:n.2101-1G>C
XR_002959322.1:n.2368-1G>C
NM_000465.4:c.2002-1G>C MANE Select	NP_000456.2:n.2002-1G>C
NM_001282543.2:c.1945-1G>C	NP_001269472.1:n.1945-1G>C
NM_001282545.2:c.649-1G>C	NP_001269474.1:n.649-1G>C
NM_001282548.2:c.592-1G>C	NP_001269477.1:n.592-1G>C
NM_001282549.2:c.463-1G>C	NP_001269478.1:n.463-1G>C
NR_104212.2:n.1967-1G>C
NR_104215.2:n.1910-1G>C
NR_104216.2:n.1166-1G>C