Canonical Allele Identifier: CA350458312

Gene: BARD1

Linked Data

• ClinVar Variation Id: 657183
• ClinVar RCV Id: RCV000813748
• dbSNP Id: rs1574821802
• gnomAD v4: 2-214781495-T-C
• COSMIC: COSM6031005 ; COSM6031006
• MyVariant Identifiers: chr2:g.215646219T>C (hg19) ; chr2:g.214781495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781495T>C , CM000664.2:g.214781495T>C	GRCh38
NC_000002.11:g.215646219T>C , CM000664.1:g.215646219T>C	GRCh37
NC_000002.10:g.215354464T>C	NCBI36
NG_012047.2:g.33210A>G
NG_012047.3:g.33217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.379A>G MANE Select	ENSP00000260947.4:p.Lys127Glu
ENST00000421162.2:c.215+15566A>G	ENSP00000392245.2:n.215+15566A>G
ENST00000613192.2:c.158+27917A>G	ENSP00000483275.2:n.158+27917A>G
ENST00000613374.5:c.158+27917A>G	ENSP00000484464.1:n.158+27917A>G
ENST00000613706.5:c.379A>G	ENSP00000484976.2:p.Lys127Glu
ENST00000617164.5:c.322A>G	ENSP00000480470.1:p.Lys108Glu
ENST00000619009.5:c.364+10802A>G	ENSP00000482293.1:n.364+10802A>G
ENST00000650978.1:c.221A>G
ENST00000260947.8:c.379A>G	ENSP00000260947.4:p.Lys127Glu
ENST00000421162.1:c.215+15566A>G	ENSP00000392245.1:n.215+15566A>G
ENST00000455743.5:c.230A>G	ENSP00000412186.1:p.Ter77=
ENST00000471787.1:n.274A>G
ENST00000613192.1:c.73+27917A>G	ENSP00000483275.1:n.73+27917A>G
ENST00000613374.4:c.158+27917A>G	ENSP00000484464.1:n.158+27917A>G
ENST00000613706.4:c.215+15566A>G	ENSP00000484976.1:n.215+15566A>G
ENST00000617164.4:c.322A>G	ENSP00000480470.1:p.Lys108Glu
ENST00000619009.4:c.364+10802A>G	ENSP00000482293.1:n.364+10802A>G
ENST00000620057.4:c.364+10802A>G	ENSP00000481988.1:n.364+10802A>G
NM_000465.3:c.379A>G	NP_000456.2:p.Lys127Glu
NM_001282543.1:c.322A>G	NP_001269472.1:p.Lys108Glu
NM_001282545.1:c.215+15566A>G	NP_001269474.1:n.215+15566A>G
NM_001282548.1:c.158+27917A>G	NP_001269477.1:n.158+27917A>G
NM_001282549.1:c.364+10802A>G	NP_001269478.1:n.364+10802A>G
NR_104212.1:n.372A>G
NR_104215.1:n.315A>G
NR_104216.1:n.506+10802A>G
XM_011511567.1:c.325A>G	XP_011509869.1:p.Lys109Glu
XM_011511568.1:c.379A>G	XP_011509870.1:p.Lys127Glu
XM_017004613.1:c.478A>G	XP_016860102.1:p.Lys160Glu
XM_017004614.1:c.478A>G	XP_016860103.1:p.Lys160Glu
XR_002959322.1:n.569A>G
NM_000465.4:c.379A>G MANE Select	NP_000456.2:p.Lys127Glu
NM_001282543.2:c.322A>G	NP_001269472.1:p.Lys108Glu
NM_001282545.2:c.215+15566A>G	NP_001269474.1:n.215+15566A>G
NM_001282548.2:c.158+27917A>G	NP_001269477.1:n.158+27917A>G
NM_001282549.2:c.364+10802A>G	NP_001269478.1:n.364+10802A>G
NR_104212.2:n.344A>G
NR_104215.2:n.287A>G
NR_104216.2:n.478+10802A>G