Canonical Allele Identifier: CA350453959

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645448A>G (hg19) ; chr2:g.214780724A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780724A>G , CM000664.2:g.214780724A>G	GRCh38
NC_000002.11:g.215645448A>G , CM000664.1:g.215645448A>G	GRCh37
NC_000002.10:g.215353693A>G	NCBI36
NG_012047.2:g.33981T>C
NG_012047.3:g.33988T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1150T>C MANE Select	ENSP00000260947.4:p.Ser384Pro
ENST00000421162.2:c.215+16337T>C	ENSP00000392245.2:n.215+16337T>C
ENST00000613192.2:c.158+28688T>C	ENSP00000483275.2:n.158+28688T>C
ENST00000613374.5:c.159-28169T>C	ENSP00000484464.1:n.159-28169T>C
ENST00000613706.5:c.906+244T>C	ENSP00000484976.2:n.906+244T>C
ENST00000617164.5:c.1093T>C	ENSP00000480470.1:p.Ser365Pro
ENST00000619009.5:c.364+11573T>C	ENSP00000482293.1:n.364+11573T>C
ENST00000650978.1:c.992T>C
ENST00000260947.8:c.1150T>C	ENSP00000260947.4:p.Ser384Pro
ENST00000421162.1:c.215+16337T>C	ENSP00000392245.1:n.215+16337T>C
ENST00000455743.5:c.*770T>C	ENSP00000412186.1:n.*770T>C
ENST00000613192.1:c.73+28688T>C	ENSP00000483275.1:n.73+28688T>C
ENST00000613374.4:c.159-28169T>C	ENSP00000484464.1:n.159-28169T>C
ENST00000613706.4:c.215+16337T>C	ENSP00000484976.1:n.215+16337T>C
ENST00000617164.4:c.1093T>C	ENSP00000480470.1:p.Ser365Pro
ENST00000619009.4:c.364+11573T>C	ENSP00000482293.1:n.364+11573T>C
ENST00000620057.4:c.365-11412T>C	ENSP00000481988.1:n.365-11412T>C
NM_000465.3:c.1150T>C	NP_000456.2:p.Ser384Pro
NM_001282543.1:c.1093T>C	NP_001269472.1:p.Ser365Pro
NM_001282545.1:c.215+16337T>C	NP_001269474.1:n.215+16337T>C
NM_001282548.1:c.159-28169T>C	NP_001269477.1:n.159-28169T>C
NM_001282549.1:c.364+11573T>C	NP_001269478.1:n.364+11573T>C
NR_104212.1:n.1143T>C
NR_104215.1:n.1086T>C
NR_104216.1:n.507-11412T>C
XM_011511567.1:c.1096T>C	XP_011509869.1:p.Ser366Pro
XM_011511568.1:c.1150T>C	XP_011509870.1:p.Ser384Pro
XM_017004613.1:c.1249T>C	XP_016860102.1:p.Ser417Pro
XM_017004614.1:c.1249T>C	XP_016860103.1:p.Ser417Pro
XR_002959322.1:n.1340T>C
NM_000465.4:c.1150T>C MANE Select	NP_000456.2:p.Ser384Pro
NM_001282543.2:c.1093T>C	NP_001269472.1:p.Ser365Pro
NM_001282545.2:c.215+16337T>C	NP_001269474.1:n.215+16337T>C
NM_001282548.2:c.159-28169T>C	NP_001269477.1:n.159-28169T>C
NM_001282549.2:c.364+11573T>C	NP_001269478.1:n.364+11573T>C
NR_104212.2:n.1115T>C
NR_104215.2:n.1058T>C
NR_104216.2:n.479-11412T>C