Canonical Allele Identifier: CA2090073

Gene: BARD1

Linked Data

• dbSNP Id: rs765890845
• ExAC: 2:215593590 T / G
• gnomAD v2: 2-215593590-T-G
• gnomAD v4: 2-214728866-T-G
• MyVariant Identifiers: chr2:g.215593590T>G (hg19) ; chr2:g.214728866T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728866T>G , CM000664.2:g.214728866T>G	GRCh38
NC_000002.11:g.215593590T>G , CM000664.1:g.215593590T>G	GRCh37
NC_000002.10:g.215301835T>G	NCBI36
NG_012047.2:g.85839A>C
NG_012047.3:g.85846A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2144A>C MANE Select	ENSP00000260947.4:p.Gln715Pro
ENST00000421162.2:c.791A>C	ENSP00000392245.2:p.Gln264Pro
ENST00000613192.2:c.*207A>C	ENSP00000483275.2:n.*207A>C
ENST00000613374.5:c.734A>C	ENSP00000484464.1:p.Gln245Pro
ENST00000613706.5:c.1736A>C	ENSP00000484976.2:p.Gln579Pro
ENST00000617164.5:c.2087A>C	ENSP00000480470.1:p.Gln696Pro
ENST00000619009.5:c.605A>C	ENSP00000482293.1:p.Gln202Pro
ENST00000650978.1:c.3519A>C
ENST00000260947.8:c.2144A>C	ENSP00000260947.4:p.Gln715Pro
ENST00000432456.5:c.287A>C
ENST00000455743.5:c.*1764A>C	ENSP00000412186.1:n.*1764A>C
ENST00000471590.5:n.479A>C
ENST00000613192.1:c.314A>C	ENSP00000483275.1:p.Gln105Pro
ENST00000613374.4:c.734A>C	ENSP00000484464.1:p.Gln245Pro
ENST00000613706.4:c.791A>C	ENSP00000484976.1:p.Gln264Pro
ENST00000617164.4:c.2087A>C	ENSP00000480470.1:p.Gln696Pro
ENST00000619009.4:c.605A>C	ENSP00000482293.1:p.Gln202Pro
ENST00000620057.4:c.*810A>C	ENSP00000481988.1:n.*810A>C
NM_000465.3:c.2144A>C	NP_000456.2:p.Gln715Pro
NM_001282543.1:c.2087A>C	NP_001269472.1:p.Gln696Pro
NM_001282545.1:c.791A>C	NP_001269474.1:p.Gln264Pro
NM_001282548.1:c.734A>C	NP_001269477.1:p.Gln245Pro
NM_001282549.1:c.605A>C	NP_001269478.1:p.Gln202Pro
NR_104212.1:n.2137A>C
NR_104215.1:n.2080A>C
NR_104216.1:n.1336A>C
XM_011511567.1:c.2090A>C	XP_011509869.1:p.Gln697Pro
XM_017004613.1:c.2243A>C	XP_016860102.1:p.Gln748Pro
XR_002959322.1:n.2510A>C
NM_000465.4:c.2144A>C MANE Select	NP_000456.2:p.Gln715Pro
NM_001282543.2:c.2087A>C	NP_001269472.1:p.Gln696Pro
NM_001282545.2:c.791A>C	NP_001269474.1:p.Gln264Pro
NM_001282548.2:c.734A>C	NP_001269477.1:p.Gln245Pro
NM_001282549.2:c.605A>C	NP_001269478.1:p.Gln202Pro
NR_104212.2:n.2109A>C
NR_104215.2:n.2052A>C
NR_104216.2:n.1308A>C