Canonical Allele Identifier: CA2090421

Gene: BARD1

Linked Data

• ClinVar Variation Id: 231498
• ClinVar RCV Id: RCV000217143 ; RCV000478558 ; RCV000708907
• dbSNP Id: rs750350372
• ExAC: 2:215646108 G / C
• gnomAD v2: 2-215646108-G-C
• gnomAD v3: 2-214781384-G-C
• gnomAD v4: 2-214781384-G-C
• MyVariant Identifiers: chr2:g.215646108G>C (hg19) ; chr2:g.214781384G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781384G>C , CM000664.2:g.214781384G>C	GRCh38
NC_000002.11:g.215646108G>C , CM000664.1:g.215646108G>C	GRCh37
NC_000002.10:g.215354353G>C	NCBI36
NG_012047.2:g.33321C>G
NG_012047.3:g.33328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.490C>G MANE Select	ENSP00000260947.4:p.Gln164Glu
ENST00000421162.2:c.215+15677C>G	ENSP00000392245.2:n.215+15677C>G
ENST00000613192.2:c.158+28028C>G	ENSP00000483275.2:n.158+28028C>G
ENST00000613374.5:c.158+28028C>G	ENSP00000484464.1:n.158+28028C>G
ENST00000613706.5:c.490C>G	ENSP00000484976.2:p.Gln164Glu
ENST00000617164.5:c.433C>G	ENSP00000480470.1:p.Gln145Glu
ENST00000619009.5:c.364+10913C>G	ENSP00000482293.1:n.364+10913C>G
ENST00000650978.1:c.332C>G
ENST00000260947.8:c.490C>G	ENSP00000260947.4:p.Gln164Glu
ENST00000421162.1:c.215+15677C>G	ENSP00000392245.1:n.215+15677C>G
ENST00000455743.5:c.*110C>G	ENSP00000412186.1:n.*110C>G
ENST00000471787.1:n.385C>G
ENST00000613192.1:c.73+28028C>G	ENSP00000483275.1:n.73+28028C>G
ENST00000613374.4:c.158+28028C>G	ENSP00000484464.1:n.158+28028C>G
ENST00000613706.4:c.215+15677C>G	ENSP00000484976.1:n.215+15677C>G
ENST00000617164.4:c.433C>G	ENSP00000480470.1:p.Gln145Glu
ENST00000619009.4:c.364+10913C>G	ENSP00000482293.1:n.364+10913C>G
ENST00000620057.4:c.364+10913C>G	ENSP00000481988.1:n.364+10913C>G
NM_000465.3:c.490C>G	NP_000456.2:p.Gln164Glu
NM_001282543.1:c.433C>G	NP_001269472.1:p.Gln145Glu
NM_001282545.1:c.215+15677C>G	NP_001269474.1:n.215+15677C>G
NM_001282548.1:c.158+28028C>G	NP_001269477.1:n.158+28028C>G
NM_001282549.1:c.364+10913C>G	NP_001269478.1:n.364+10913C>G
NR_104212.1:n.483C>G
NR_104215.1:n.426C>G
NR_104216.1:n.506+10913C>G
XM_011511567.1:c.436C>G	XP_011509869.1:p.Gln146Glu
XM_011511568.1:c.490C>G	XP_011509870.1:p.Gln164Glu
XM_017004613.1:c.589C>G	XP_016860102.1:p.Gln197Glu
XM_017004614.1:c.589C>G	XP_016860103.1:p.Gln197Glu
XR_002959322.1:n.680C>G
NM_000465.4:c.490C>G MANE Select	NP_000456.2:p.Gln164Glu
NM_001282543.2:c.433C>G	NP_001269472.1:p.Gln145Glu
NM_001282545.2:c.215+15677C>G	NP_001269474.1:n.215+15677C>G
NM_001282548.2:c.158+28028C>G	NP_001269477.1:n.158+28028C>G
NM_001282549.2:c.364+10913C>G	NP_001269478.1:n.364+10913C>G
NR_104212.2:n.455C>G
NR_104215.2:n.398C>G
NR_104216.2:n.478+10913C>G