Canonical Allele Identifier: CA431391937

Gene: BARD1

Linked Data

• ClinVar Variation Id: 516425
• ClinVar RCV Id: RCV002325183
• dbSNP Id: rs2229571
• MyVariant Identifiers: chr2:g.215645464C>T (hg19) ; chr2:g.214780740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780740C>T , CM000664.2:g.214780740C>T	GRCh38
NC_000002.11:g.215645464C>T , CM000664.1:g.215645464C>T	GRCh37
NC_000002.10:g.215353709C>T	NCBI36
NG_012047.2:g.33965G>A
NG_012047.3:g.33972G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1134G>A MANE Select	ENSP00000260947.4:p.Arg378=
ENST00000421162.2:c.215+16321G>A	ENSP00000392245.2:n.215+16321G>A
ENST00000613192.2:c.158+28672G>A	ENSP00000483275.2:n.158+28672G>A
ENST00000613374.5:c.159-28185G>A	ENSP00000484464.1:n.159-28185G>A
ENST00000613706.5:c.906+228G>A	ENSP00000484976.2:n.906+228G>A
ENST00000617164.5:c.1077G>A	ENSP00000480470.1:p.Arg359=
ENST00000619009.5:c.364+11557G>A	ENSP00000482293.1:n.364+11557G>A
ENST00000650978.1:c.976G>A
ENST00000260947.8:c.1134G>A	ENSP00000260947.4:p.Arg378=
ENST00000421162.1:c.215+16321G>A	ENSP00000392245.1:n.215+16321G>A
ENST00000455743.5:c.*754G>A	ENSP00000412186.1:n.*754G>A
ENST00000613192.1:c.73+28672G>A	ENSP00000483275.1:n.73+28672G>A
ENST00000613374.4:c.159-28185G>A	ENSP00000484464.1:n.159-28185G>A
ENST00000613706.4:c.215+16321G>A	ENSP00000484976.1:n.215+16321G>A
ENST00000617164.4:c.1077G>A	ENSP00000480470.1:p.Arg359=
ENST00000619009.4:c.364+11557G>A	ENSP00000482293.1:n.364+11557G>A
ENST00000620057.4:c.365-11428G>A	ENSP00000481988.1:n.365-11428G>A
NM_000465.3:c.1134G>A	NP_000456.2:p.Arg378=
NM_001282543.1:c.1077G>A	NP_001269472.1:p.Arg359=
NM_001282545.1:c.215+16321G>A	NP_001269474.1:n.215+16321G>A
NM_001282548.1:c.159-28185G>A	NP_001269477.1:n.159-28185G>A
NM_001282549.1:c.364+11557G>A	NP_001269478.1:n.364+11557G>A
NR_104212.1:n.1127G>A
NR_104215.1:n.1070G>A
NR_104216.1:n.507-11428G>A
XM_011511567.1:c.1080G>A	XP_011509869.1:p.Arg360=
XM_011511568.1:c.1134G>A	XP_011509870.1:p.Arg378=
XM_017004613.1:c.1233G>A	XP_016860102.1:p.Arg411=
XM_017004614.1:c.1233G>A	XP_016860103.1:p.Arg411=
XR_002959322.1:n.1324G>A
NM_000465.4:c.1134G>A MANE Select	NP_000456.2:p.Arg378=
NM_001282543.2:c.1077G>A	NP_001269472.1:p.Arg359=
NM_001282545.2:c.215+16321G>A	NP_001269474.1:n.215+16321G>A
NM_001282548.2:c.159-28185G>A	NP_001269477.1:n.159-28185G>A
NM_001282549.2:c.364+11557G>A	NP_001269478.1:n.364+11557G>A
NR_104212.2:n.1099G>A
NR_104215.2:n.1042G>A
NR_104216.2:n.479-11428G>A