Canonical Allele Identifier: CA2090393

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1097171
• ClinVar RCV Id: RCV001418644
• dbSNP Id: rs760951875
• ExAC: 2:215645881 C / T
• gnomAD v2: 2-215645881-C-T
• gnomAD v4: 2-214781157-C-T
• COSMIC: COSM6284988 ; COSM6284989
• MyVariant Identifiers: chr2:g.215645881C>T (hg19) ; chr2:g.214781157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781157C>T , CM000664.2:g.214781157C>T	GRCh38
NC_000002.11:g.215645881C>T , CM000664.1:g.215645881C>T	GRCh37
NC_000002.10:g.215354126C>T	NCBI36
NG_012047.2:g.33548G>A
NG_012047.3:g.33555G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.717G>A MANE Select	ENSP00000260947.4:p.Leu239=
ENST00000421162.2:c.215+15904G>A	ENSP00000392245.2:n.215+15904G>A
ENST00000613192.2:c.158+28255G>A	ENSP00000483275.2:n.158+28255G>A
ENST00000613374.5:c.158+28255G>A	ENSP00000484464.1:n.158+28255G>A
ENST00000613706.5:c.717G>A	ENSP00000484976.2:p.Leu239=
ENST00000617164.5:c.660G>A	ENSP00000480470.1:p.Leu220=
ENST00000619009.5:c.364+11140G>A	ENSP00000482293.1:n.364+11140G>A
ENST00000650978.1:c.559G>A
ENST00000260947.8:c.717G>A	ENSP00000260947.4:p.Leu239=
ENST00000421162.1:c.215+15904G>A	ENSP00000392245.1:n.215+15904G>A
ENST00000455743.5:c.*337G>A	ENSP00000412186.1:n.*337G>A
ENST00000471787.1:n.612G>A
ENST00000613192.1:c.73+28255G>A	ENSP00000483275.1:n.73+28255G>A
ENST00000613374.4:c.158+28255G>A	ENSP00000484464.1:n.158+28255G>A
ENST00000613706.4:c.215+15904G>A	ENSP00000484976.1:n.215+15904G>A
ENST00000617164.4:c.660G>A	ENSP00000480470.1:p.Leu220=
ENST00000619009.4:c.364+11140G>A	ENSP00000482293.1:n.364+11140G>A
ENST00000620057.4:c.364+11140G>A	ENSP00000481988.1:n.364+11140G>A
NM_000465.3:c.717G>A	NP_000456.2:p.Leu239=
NM_001282543.1:c.660G>A	NP_001269472.1:p.Leu220=
NM_001282545.1:c.215+15904G>A	NP_001269474.1:n.215+15904G>A
NM_001282548.1:c.158+28255G>A	NP_001269477.1:n.158+28255G>A
NM_001282549.1:c.364+11140G>A	NP_001269478.1:n.364+11140G>A
NR_104212.1:n.710G>A
NR_104215.1:n.653G>A
NR_104216.1:n.506+11140G>A
XM_011511567.1:c.663G>A	XP_011509869.1:p.Leu221=
XM_011511568.1:c.717G>A	XP_011509870.1:p.Leu239=
XM_017004613.1:c.816G>A	XP_016860102.1:p.Leu272=
XM_017004614.1:c.816G>A	XP_016860103.1:p.Leu272=
XR_002959322.1:n.907G>A
NM_000465.4:c.717G>A MANE Select	NP_000456.2:p.Leu239=
NM_001282543.2:c.660G>A	NP_001269472.1:p.Leu220=
NM_001282545.2:c.215+15904G>A	NP_001269474.1:n.215+15904G>A
NM_001282548.2:c.158+28255G>A	NP_001269477.1:n.158+28255G>A
NM_001282549.2:c.364+11140G>A	NP_001269478.1:n.364+11140G>A
NR_104212.2:n.682G>A
NR_104215.2:n.625G>A
NR_104216.2:n.478+11140G>A