Canonical Allele Identifier: CA431136953

Gene: BARD1

Linked Data

• ClinVar Variation Id: 481395
• ClinVar RCV Id: RCV000565313 ; RCV002060427
• dbSNP Id: rs1435093585
• gnomAD v4: 2-214781496-A-G
• MyVariant Identifiers: chr2:g.215646220A>G (hg19) ; chr2:g.214781496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781496A>G , CM000664.2:g.214781496A>G	GRCh38
NC_000002.11:g.215646220A>G , CM000664.1:g.215646220A>G	GRCh37
NC_000002.10:g.215354465A>G	NCBI36
NG_012047.2:g.33209T>C
NG_012047.3:g.33216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.378T>C MANE Select	ENSP00000260947.4:p.Asp126=
ENST00000421162.2:c.215+15565T>C	ENSP00000392245.2:n.215+15565T>C
ENST00000613192.2:c.158+27916T>C	ENSP00000483275.2:n.158+27916T>C
ENST00000613374.5:c.158+27916T>C	ENSP00000484464.1:n.158+27916T>C
ENST00000613706.5:c.378T>C	ENSP00000484976.2:p.Asp126=
ENST00000617164.5:c.321T>C	ENSP00000480470.1:p.Asp107=
ENST00000619009.5:c.364+10801T>C	ENSP00000482293.1:n.364+10801T>C
ENST00000650978.1:c.220T>C
ENST00000260947.8:c.378T>C	ENSP00000260947.4:p.Asp126=
ENST00000421162.1:c.215+15565T>C	ENSP00000392245.1:n.215+15565T>C
ENST00000455743.5:c.229T>C	ENSP00000412186.1:p.Ter77Gln
ENST00000471787.1:n.273T>C
ENST00000613192.1:c.73+27916T>C	ENSP00000483275.1:n.73+27916T>C
ENST00000613374.4:c.158+27916T>C	ENSP00000484464.1:n.158+27916T>C
ENST00000613706.4:c.215+15565T>C	ENSP00000484976.1:n.215+15565T>C
ENST00000617164.4:c.321T>C	ENSP00000480470.1:p.Asp107=
ENST00000619009.4:c.364+10801T>C	ENSP00000482293.1:n.364+10801T>C
ENST00000620057.4:c.364+10801T>C	ENSP00000481988.1:n.364+10801T>C
NM_000465.3:c.378T>C	NP_000456.2:p.Asp126=
NM_001282543.1:c.321T>C	NP_001269472.1:p.Asp107=
NM_001282545.1:c.215+15565T>C	NP_001269474.1:n.215+15565T>C
NM_001282548.1:c.158+27916T>C	NP_001269477.1:n.158+27916T>C
NM_001282549.1:c.364+10801T>C	NP_001269478.1:n.364+10801T>C
NR_104212.1:n.371T>C
NR_104215.1:n.314T>C
NR_104216.1:n.506+10801T>C
XM_011511567.1:c.324T>C	XP_011509869.1:p.Asp108=
XM_011511568.1:c.378T>C	XP_011509870.1:p.Asp126=
XM_017004613.1:c.477T>C	XP_016860102.1:p.Asp159=
XM_017004614.1:c.477T>C	XP_016860103.1:p.Asp159=
XR_002959322.1:n.568T>C
NM_000465.4:c.378T>C MANE Select	NP_000456.2:p.Asp126=
NM_001282543.2:c.321T>C	NP_001269472.1:p.Asp107=
NM_001282545.2:c.215+15565T>C	NP_001269474.1:n.215+15565T>C
NM_001282548.2:c.158+27916T>C	NP_001269477.1:n.158+27916T>C
NM_001282549.2:c.364+10801T>C	NP_001269478.1:n.364+10801T>C
NR_104212.2:n.343T>C
NR_104215.2:n.286T>C
NR_104216.2:n.478+10801T>C