Canonical Allele Identifier: CA350460924

Gene: BARD1

Linked Data

• ClinVar Variation Id: 3231796
• ClinVar RCV Id: RCV004518511
• MyVariant Identifiers: chr2:g.215657069G>C (hg19) ; chr2:g.214792345G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792345G>C , CM000664.2:g.214792345G>C	GRCh38
NC_000002.11:g.215657069G>C , CM000664.1:g.215657069G>C	GRCh37
NC_000002.10:g.215365314G>C	NCBI36
NG_012047.2:g.22360C>G
NG_012047.3:g.22367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.316C>G MANE Select	ENSP00000260947.4:p.Gln106Glu
ENST00000421162.2:c.215+4716C>G	ENSP00000392245.2:n.215+4716C>G
ENST00000613192.2:c.158+17067C>G	ENSP00000483275.2:n.158+17067C>G
ENST00000613374.5:c.158+17067C>G	ENSP00000484464.1:n.158+17067C>G
ENST00000613706.5:c.316C>G	ENSP00000484976.2:p.Gln106Glu
ENST00000617164.5:c.259C>G	ENSP00000480470.1:p.Gln87Glu
ENST00000619009.5:c.316C>G	ENSP00000482293.1:p.Gln106Glu
ENST00000650978.1:c.158C>G
ENST00000260947.8:c.316C>G	ENSP00000260947.4:p.Gln106Glu
ENST00000421162.1:c.215+4716C>G	ENSP00000392245.1:n.215+4716C>G
ENST00000455743.5:c.215+4716C>G	ENSP00000412186.1:n.215+4716C>G
ENST00000471787.1:n.260-10836C>G
ENST00000613192.1:c.73+17067C>G	ENSP00000483275.1:n.73+17067C>G
ENST00000613374.4:c.158+17067C>G	ENSP00000484464.1:n.158+17067C>G
ENST00000613706.4:c.215+4716C>G	ENSP00000484976.1:n.215+4716C>G
ENST00000617164.4:c.259C>G	ENSP00000480470.1:p.Gln87Glu
ENST00000619009.4:c.316C>G	ENSP00000482293.1:p.Gln106Glu
ENST00000620057.4:c.316C>G	ENSP00000481988.1:p.Gln106Glu
NM_000465.3:c.316C>G	NP_000456.2:p.Gln106Glu
NM_001282543.1:c.259C>G	NP_001269472.1:p.Gln87Glu
NM_001282545.1:c.215+4716C>G	NP_001269474.1:n.215+4716C>G
NM_001282548.1:c.158+17067C>G	NP_001269477.1:n.158+17067C>G
NM_001282549.1:c.316C>G	NP_001269478.1:p.Gln106Glu
NR_104212.1:n.357+4716C>G
NR_104215.1:n.301-10836C>G
NR_104216.1:n.458C>G
XM_011511567.1:c.262C>G	XP_011509869.1:p.Gln88Glu
XM_011511568.1:c.316C>G	XP_011509870.1:p.Gln106Glu
XM_017004613.1:c.415C>G	XP_016860102.1:p.Gln139Glu
XM_017004614.1:c.415C>G	XP_016860103.1:p.Gln139Glu
XR_002959322.1:n.506C>G
NM_000465.4:c.316C>G MANE Select	NP_000456.2:p.Gln106Glu
NM_001282543.2:c.259C>G	NP_001269472.1:p.Gln87Glu
NM_001282545.2:c.215+4716C>G	NP_001269474.1:n.215+4716C>G
NM_001282548.2:c.158+17067C>G	NP_001269477.1:n.158+17067C>G
NM_001282549.2:c.316C>G	NP_001269478.1:p.Gln106Glu
NR_104212.2:n.329+4716C>G
NR_104215.2:n.273-10836C>G
NR_104216.2:n.430C>G