Canonical Allele Identifier: CA350449961

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593468A>G (hg19) ; chr2:g.214728744A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728744A>G , CM000664.2:g.214728744A>G	GRCh38
NC_000002.11:g.215593468A>G , CM000664.1:g.215593468A>G	GRCh37
NC_000002.10:g.215301713A>G	NCBI36
NG_012047.2:g.85961T>C
NG_012047.3:g.85968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2266T>C MANE Select	ENSP00000260947.4:p.Trp756Arg
ENST00000421162.2:c.913T>C	ENSP00000392245.2:p.Trp305Arg
ENST00000613192.2:c.*329T>C	ENSP00000483275.2:n.*329T>C
ENST00000613374.5:c.856T>C	ENSP00000484464.1:p.Trp286Arg
ENST00000613706.5:c.1858T>C	ENSP00000484976.2:p.Trp620Arg
ENST00000617164.5:c.2209T>C	ENSP00000480470.1:p.Trp737Arg
ENST00000619009.5:c.727T>C	ENSP00000482293.1:p.Trp243Arg
ENST00000650978.1:c.3641T>C
ENST00000260947.8:c.2266T>C	ENSP00000260947.4:p.Trp756Arg
ENST00000432456.5:c.409T>C
ENST00000455743.5:c.*1886T>C	ENSP00000412186.1:n.*1886T>C
ENST00000471590.5:n.601T>C
ENST00000613192.1:c.436T>C	ENSP00000483275.1:p.Trp146Arg
ENST00000613374.4:c.856T>C	ENSP00000484464.1:p.Trp286Arg
ENST00000613706.4:c.913T>C	ENSP00000484976.1:p.Trp305Arg
ENST00000617164.4:c.2209T>C	ENSP00000480470.1:p.Trp737Arg
ENST00000619009.4:c.727T>C	ENSP00000482293.1:p.Trp243Arg
ENST00000620057.4:c.*932T>C	ENSP00000481988.1:n.*932T>C
NM_000465.3:c.2266T>C	NP_000456.2:p.Trp756Arg
NM_001282543.1:c.2209T>C	NP_001269472.1:p.Trp737Arg
NM_001282545.1:c.913T>C	NP_001269474.1:p.Trp305Arg
NM_001282548.1:c.856T>C	NP_001269477.1:p.Trp286Arg
NM_001282549.1:c.727T>C	NP_001269478.1:p.Trp243Arg
NR_104212.1:n.2259T>C
NR_104215.1:n.2202T>C
NR_104216.1:n.1458T>C
XM_011511567.1:c.2212T>C	XP_011509869.1:p.Trp738Arg
XM_017004613.1:c.2365T>C	XP_016860102.1:p.Trp789Arg
XR_002959322.1:n.2632T>C
NM_000465.4:c.2266T>C MANE Select	NP_000456.2:p.Trp756Arg
NM_001282543.2:c.2209T>C	NP_001269472.1:p.Trp737Arg
NM_001282545.2:c.913T>C	NP_001269474.1:p.Trp305Arg
NM_001282548.2:c.856T>C	NP_001269477.1:p.Trp286Arg
NM_001282549.2:c.727T>C	NP_001269478.1:p.Trp243Arg
NR_104212.2:n.2231T>C
NR_104215.2:n.2174T>C
NR_104216.2:n.1430T>C