Canonical Allele Identifier: CA431391976

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645470T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780746T>G , CM000664.2:g.214780746T>G	GRCh38
NC_000002.11:g.215645470T>G , CM000664.1:g.215645470T>G	GRCh37
NC_000002.10:g.215353715T>G	NCBI36
NG_012047.2:g.33959A>C
NG_012047.3:g.33966A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1128A>C MANE Select	ENSP00000260947.4:p.Ser376=
ENST00000421162.2:c.215+16315A>C	ENSP00000392245.2:n.215+16315A>C
ENST00000613192.2:c.158+28666A>C	ENSP00000483275.2:n.158+28666A>C
ENST00000613374.5:c.159-28191A>C	ENSP00000484464.1:n.159-28191A>C
ENST00000613706.5:c.906+222A>C	ENSP00000484976.2:n.906+222A>C
ENST00000617164.5:c.1071A>C	ENSP00000480470.1:p.Ser357=
ENST00000619009.5:c.364+11551A>C	ENSP00000482293.1:n.364+11551A>C
ENST00000650978.1:c.970A>C
ENST00000260947.8:c.1128A>C	ENSP00000260947.4:p.Ser376=
ENST00000421162.1:c.215+16315A>C	ENSP00000392245.1:n.215+16315A>C
ENST00000455743.5:c.*748A>C	ENSP00000412186.1:n.*748A>C
ENST00000613192.1:c.73+28666A>C	ENSP00000483275.1:n.73+28666A>C
ENST00000613374.4:c.159-28191A>C	ENSP00000484464.1:n.159-28191A>C
ENST00000613706.4:c.215+16315A>C	ENSP00000484976.1:n.215+16315A>C
ENST00000617164.4:c.1071A>C	ENSP00000480470.1:p.Ser357=
ENST00000619009.4:c.364+11551A>C	ENSP00000482293.1:n.364+11551A>C
ENST00000620057.4:c.365-11434A>C	ENSP00000481988.1:n.365-11434A>C
NM_000465.3:c.1128A>C	NP_000456.2:p.Ser376=
NM_001282543.1:c.1071A>C	NP_001269472.1:p.Ser357=
NM_001282545.1:c.215+16315A>C	NP_001269474.1:n.215+16315A>C
NM_001282548.1:c.159-28191A>C	NP_001269477.1:n.159-28191A>C
NM_001282549.1:c.364+11551A>C	NP_001269478.1:n.364+11551A>C
NR_104212.1:n.1121A>C
NR_104215.1:n.1064A>C
NR_104216.1:n.507-11434A>C
XM_011511567.1:c.1074A>C	XP_011509869.1:p.Ser358=
XM_011511568.1:c.1128A>C	XP_011509870.1:p.Ser376=
XM_017004613.1:c.1227A>C	XP_016860102.1:p.Ser409=
XM_017004614.1:c.1227A>C	XP_016860103.1:p.Ser409=
XR_002959322.1:n.1318A>C
NM_000465.4:c.1128A>C MANE Select	NP_000456.2:p.Ser376=
NM_001282543.2:c.1071A>C	NP_001269472.1:p.Ser357=
NM_001282545.2:c.215+16315A>C	NP_001269474.1:n.215+16315A>C
NM_001282548.2:c.159-28191A>C	NP_001269477.1:n.159-28191A>C
NM_001282549.2:c.364+11551A>C	NP_001269478.1:n.364+11551A>C
NR_104212.2:n.1093A>C
NR_104215.2:n.1036A>C
NR_104216.2:n.479-11434A>C