Canonical Allele Identifier: CA167168

Gene: BARD1

Linked Data

• ClinVar Variation Id: 142025
• ClinVar RCV Id: RCV000130815 ; RCV000244992 ; RCV000860368 ; RCV001618290 ; RCV002225435
• dbSNP Id: rs2070096
• ExAC: 2:215645545 C / G
• gnomAD v2: 2-215645545-C-G
• gnomAD v3: 2-214780821-C-G
• gnomAD v4: 2-214780821-C-G
• MyVariant Identifiers: chr2:g.215645545C>G (hg19) ; chr2:g.214780821C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780821C>G , CM000664.2:g.214780821C>G	GRCh38
NC_000002.11:g.215645545C>G , CM000664.1:g.215645545C>G	GRCh37
NC_000002.10:g.215353790C>G	NCBI36
NG_012047.2:g.33884G>C
NG_012047.3:g.33891G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1053G>C MANE Select	ENSP00000260947.4:p.Thr351=
ENST00000421162.2:c.215+16240G>C	ENSP00000392245.2:n.215+16240G>C
ENST00000613192.2:c.158+28591G>C	ENSP00000483275.2:n.158+28591G>C
ENST00000613374.5:c.159-28266G>C	ENSP00000484464.1:n.159-28266G>C
ENST00000613706.5:c.906+147G>C	ENSP00000484976.2:n.906+147G>C
ENST00000617164.5:c.996G>C	ENSP00000480470.1:p.Thr332=
ENST00000619009.5:c.364+11476G>C	ENSP00000482293.1:n.364+11476G>C
ENST00000650978.1:c.895G>C
ENST00000260947.8:c.1053G>C	ENSP00000260947.4:p.Thr351=
ENST00000421162.1:c.215+16240G>C	ENSP00000392245.1:n.215+16240G>C
ENST00000455743.5:c.*673G>C	ENSP00000412186.1:n.*673G>C
ENST00000613192.1:c.73+28591G>C	ENSP00000483275.1:n.73+28591G>C
ENST00000613374.4:c.159-28266G>C	ENSP00000484464.1:n.159-28266G>C
ENST00000613706.4:c.215+16240G>C	ENSP00000484976.1:n.215+16240G>C
ENST00000617164.4:c.996G>C	ENSP00000480470.1:p.Thr332=
ENST00000619009.4:c.364+11476G>C	ENSP00000482293.1:n.364+11476G>C
ENST00000620057.4:c.364+11476G>C	ENSP00000481988.1:n.364+11476G>C
NM_000465.3:c.1053G>C	NP_000456.2:p.Thr351=
NM_001282543.1:c.996G>C	NP_001269472.1:p.Thr332=
NM_001282545.1:c.215+16240G>C	NP_001269474.1:n.215+16240G>C
NM_001282548.1:c.159-28266G>C	NP_001269477.1:n.159-28266G>C
NM_001282549.1:c.364+11476G>C	NP_001269478.1:n.364+11476G>C
NR_104212.1:n.1046G>C
NR_104215.1:n.989G>C
NR_104216.1:n.506+11476G>C
XM_011511567.1:c.999G>C	XP_011509869.1:p.Thr333=
XM_011511568.1:c.1053G>C	XP_011509870.1:p.Thr351=
XM_017004613.1:c.1152G>C	XP_016860102.1:p.Thr384=
XM_017004614.1:c.1152G>C	XP_016860103.1:p.Thr384=
XR_002959322.1:n.1243G>C
NM_000465.4:c.1053G>C MANE Select	NP_000456.2:p.Thr351=
NM_001282543.2:c.996G>C	NP_001269472.1:p.Thr332=
NM_001282545.2:c.215+16240G>C	NP_001269474.1:n.215+16240G>C
NM_001282548.2:c.159-28266G>C	NP_001269477.1:n.159-28266G>C
NM_001282549.2:c.364+11476G>C	NP_001269478.1:n.364+11476G>C
NR_104212.2:n.1018G>C
NR_104215.2:n.961G>C
NR_104216.2:n.478+11476G>C