Canonical Allele Identifier: CA350449818

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593437C>G (hg19) ; chr2:g.214728713C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728713C>G , CM000664.2:g.214728713C>G	GRCh38
NC_000002.11:g.215593437C>G , CM000664.1:g.215593437C>G	GRCh37
NC_000002.10:g.215301682C>G	NCBI36
NG_012047.2:g.85992G>C
NG_012047.3:g.85999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2297G>C MANE Select	ENSP00000260947.4:p.Cys766Ser
ENST00000421162.2:c.944G>C	ENSP00000392245.2:p.Cys315Ser
ENST00000613192.2:c.*360G>C	ENSP00000483275.2:n.*360G>C
ENST00000613374.5:c.887G>C	ENSP00000484464.1:p.Cys296Ser
ENST00000613706.5:c.1889G>C	ENSP00000484976.2:p.Cys630Ser
ENST00000617164.5:c.2240G>C	ENSP00000480470.1:p.Cys747Ser
ENST00000619009.5:c.758G>C	ENSP00000482293.1:p.Cys253Ser
ENST00000650978.1:c.3672G>C
ENST00000260947.8:c.2297G>C	ENSP00000260947.4:p.Cys766Ser
ENST00000432456.5:c.440G>C
ENST00000455743.5:c.*1917G>C	ENSP00000412186.1:n.*1917G>C
ENST00000471590.5:n.632G>C
ENST00000613192.1:c.467G>C	ENSP00000483275.1:p.Cys156Ser
ENST00000613374.4:c.887G>C	ENSP00000484464.1:p.Cys296Ser
ENST00000613706.4:c.944G>C	ENSP00000484976.1:p.Cys315Ser
ENST00000617164.4:c.2240G>C	ENSP00000480470.1:p.Cys747Ser
ENST00000619009.4:c.758G>C	ENSP00000482293.1:p.Cys253Ser
ENST00000620057.4:c.*963G>C	ENSP00000481988.1:n.*963G>C
NM_000465.3:c.2297G>C	NP_000456.2:p.Cys766Ser
NM_001282543.1:c.2240G>C	NP_001269472.1:p.Cys747Ser
NM_001282545.1:c.944G>C	NP_001269474.1:p.Cys315Ser
NM_001282548.1:c.887G>C	NP_001269477.1:p.Cys296Ser
NM_001282549.1:c.758G>C	NP_001269478.1:p.Cys253Ser
NR_104212.1:n.2290G>C
NR_104215.1:n.2233G>C
NR_104216.1:n.1489G>C
XM_011511567.1:c.2243G>C	XP_011509869.1:p.Cys748Ser
XM_017004613.1:c.2396G>C	XP_016860102.1:p.Cys799Ser
XR_002959322.1:n.2663G>C
NM_000465.4:c.2297G>C MANE Select	NP_000456.2:p.Cys766Ser
NM_001282543.2:c.2240G>C	NP_001269472.1:p.Cys747Ser
NM_001282545.2:c.944G>C	NP_001269474.1:p.Cys315Ser
NM_001282548.2:c.887G>C	NP_001269477.1:p.Cys296Ser
NM_001282549.2:c.758G>C	NP_001269478.1:p.Cys253Ser
NR_104212.2:n.2262G>C
NR_104215.2:n.2205G>C
NR_104216.2:n.1461G>C