Canonical Allele Identifier: CA350449623

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593404C>G (hg19) ; chr2:g.214728680C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728680C>G , CM000664.2:g.214728680C>G	GRCh38
NC_000002.11:g.215593404C>G , CM000664.1:g.215593404C>G	GRCh37
NC_000002.10:g.215301649C>G	NCBI36
NG_012047.2:g.86025G>C
NG_012047.3:g.86032G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2330G>C MANE Select	ENSP00000260947.4:p.Ser777Thr
ENST00000421162.2:c.977G>C	ENSP00000392245.2:p.Ser326Thr
ENST00000613192.2:c.*393G>C	ENSP00000483275.2:n.*393G>C
ENST00000613374.5:c.920G>C	ENSP00000484464.1:p.Ser307Thr
ENST00000613706.5:c.1922G>C	ENSP00000484976.2:p.Ser641Thr
ENST00000617164.5:c.2273G>C	ENSP00000480470.1:p.Ser758Thr
ENST00000619009.5:c.791G>C	ENSP00000482293.1:p.Ser264Thr
ENST00000650978.1:c.3705G>C
ENST00000260947.8:c.2330G>C	ENSP00000260947.4:p.Ser777Thr
ENST00000432456.5:c.473G>C
ENST00000471590.5:n.665G>C
ENST00000613192.1:c.500G>C	ENSP00000483275.1:p.Ser167Thr
ENST00000613374.4:c.920G>C	ENSP00000484464.1:p.Ser307Thr
ENST00000613706.4:c.977G>C	ENSP00000484976.1:p.Ser326Thr
ENST00000617164.4:c.2273G>C	ENSP00000480470.1:p.Ser758Thr
ENST00000619009.4:c.791G>C	ENSP00000482293.1:p.Ser264Thr
ENST00000620057.4:c.*996G>C	ENSP00000481988.1:n.*996G>C
NM_000465.3:c.2330G>C	NP_000456.2:p.Ser777Thr
NM_001282543.1:c.2273G>C	NP_001269472.1:p.Ser758Thr
NM_001282545.1:c.977G>C	NP_001269474.1:p.Ser326Thr
NM_001282548.1:c.920G>C	NP_001269477.1:p.Ser307Thr
NM_001282549.1:c.791G>C	NP_001269478.1:p.Ser264Thr
NR_104212.1:n.2323G>C
NR_104215.1:n.2266G>C
NR_104216.1:n.1522G>C
XM_011511567.1:c.2276G>C	XP_011509869.1:p.Ser759Thr
XM_017004613.1:c.2429G>C	XP_016860102.1:p.Ser810Thr
XR_002959322.1:n.2696G>C
NM_000465.4:c.2330G>C MANE Select	NP_000456.2:p.Ser777Thr
NM_001282543.2:c.2273G>C	NP_001269472.1:p.Ser758Thr
NM_001282545.2:c.977G>C	NP_001269474.1:p.Ser326Thr
NM_001282548.2:c.920G>C	NP_001269477.1:p.Ser307Thr
NM_001282549.2:c.791G>C	NP_001269478.1:p.Ser264Thr
NR_104212.2:n.2295G>C
NR_104215.2:n.2238G>C
NR_104216.2:n.1494G>C