Canonical Allele Identifier: CA350451103

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595145C>G (hg19) ; chr2:g.214730421C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730421C>G , CM000664.2:g.214730421C>G	GRCh38
NC_000002.11:g.215595145C>G , CM000664.1:g.215595145C>G	GRCh37
NC_000002.10:g.215303390C>G	NCBI36
NG_012047.2:g.84284G>C
NG_012047.3:g.84291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1991G>C MANE Select	ENSP00000260947.4:p.Arg664Thr
ENST00000421162.2:c.638G>C	ENSP00000392245.2:p.Arg213Thr
ENST00000613192.2:c.*54G>C	ENSP00000483275.2:n.*54G>C
ENST00000613374.5:c.581G>C	ENSP00000484464.1:p.Arg194Thr
ENST00000613706.5:c.1583G>C	ENSP00000484976.2:p.Arg528Thr
ENST00000617164.5:c.1934G>C	ENSP00000480470.1:p.Arg645Thr
ENST00000619009.5:c.452G>C	ENSP00000482293.1:p.Arg151Thr
ENST00000650978.1:c.3366G>C
ENST00000260947.8:c.1991G>C	ENSP00000260947.4:p.Arg664Thr
ENST00000421162.1:c.638G>C	ENSP00000392245.1:p.Arg213Thr
ENST00000432456.5:c.88G>C
ENST00000455743.5:c.*1611G>C	ENSP00000412186.1:n.*1611G>C
ENST00000471590.5:n.326G>C
ENST00000613192.1:c.161G>C	ENSP00000483275.1:p.Arg54Thr
ENST00000613374.4:c.581G>C	ENSP00000484464.1:p.Arg194Thr
ENST00000613706.4:c.638G>C	ENSP00000484976.1:p.Arg213Thr
ENST00000617164.4:c.1934G>C	ENSP00000480470.1:p.Arg645Thr
ENST00000619009.4:c.452G>C	ENSP00000482293.1:p.Arg151Thr
ENST00000620057.4:c.*657G>C	ENSP00000481988.1:n.*657G>C
NM_000465.3:c.1991G>C	NP_000456.2:p.Arg664Thr
NM_001282543.1:c.1934G>C	NP_001269472.1:p.Arg645Thr
NM_001282545.1:c.638G>C	NP_001269474.1:p.Arg213Thr
NM_001282548.1:c.581G>C	NP_001269477.1:p.Arg194Thr
NM_001282549.1:c.452G>C	NP_001269478.1:p.Arg151Thr
NR_104212.1:n.1984G>C
NR_104215.1:n.1927G>C
NR_104216.1:n.1183G>C
XM_011511567.1:c.1937G>C	XP_011509869.1:p.Arg646Thr
XM_017004613.1:c.2090G>C	XP_016860102.1:p.Arg697Thr
XR_002959322.1:n.2181G>C
NM_000465.4:c.1991G>C MANE Select	NP_000456.2:p.Arg664Thr
NM_001282543.2:c.1934G>C	NP_001269472.1:p.Arg645Thr
NM_001282545.2:c.638G>C	NP_001269474.1:p.Arg213Thr
NM_001282548.2:c.581G>C	NP_001269477.1:p.Arg194Thr
NM_001282549.2:c.452G>C	NP_001269478.1:p.Arg151Thr
NR_104212.2:n.1956G>C
NR_104215.2:n.1899G>C
NR_104216.2:n.1155G>C