Canonical Allele Identifier: CA350449674

Gene: BARD1

Linked Data

• dbSNP Id: rs1208217643
• gnomAD v2: 2-215593413-G-C
• gnomAD v4: 2-214728689-G-C
• MyVariant Identifiers: chr2:g.215593413G>C (hg19) ; chr2:g.214728689G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728689G>C , CM000664.2:g.214728689G>C	GRCh38
NC_000002.11:g.215593413G>C , CM000664.1:g.215593413G>C	GRCh37
NC_000002.10:g.215301658G>C	NCBI36
NG_012047.2:g.86016C>G
NG_012047.3:g.86023C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2321C>G MANE Select	ENSP00000260947.4:p.Pro774Arg
ENST00000421162.2:c.968C>G	ENSP00000392245.2:p.Pro323Arg
ENST00000613192.2:c.*384C>G	ENSP00000483275.2:n.*384C>G
ENST00000613374.5:c.911C>G	ENSP00000484464.1:p.Pro304Arg
ENST00000613706.5:c.1913C>G	ENSP00000484976.2:p.Pro638Arg
ENST00000617164.5:c.2264C>G	ENSP00000480470.1:p.Pro755Arg
ENST00000619009.5:c.782C>G	ENSP00000482293.1:p.Pro261Arg
ENST00000650978.1:c.3696C>G
ENST00000260947.8:c.2321C>G	ENSP00000260947.4:p.Pro774Arg
ENST00000432456.5:c.464C>G
ENST00000471590.5:n.656C>G
ENST00000613192.1:c.491C>G	ENSP00000483275.1:p.Pro164Arg
ENST00000613374.4:c.911C>G	ENSP00000484464.1:p.Pro304Arg
ENST00000613706.4:c.968C>G	ENSP00000484976.1:p.Pro323Arg
ENST00000617164.4:c.2264C>G	ENSP00000480470.1:p.Pro755Arg
ENST00000619009.4:c.782C>G	ENSP00000482293.1:p.Pro261Arg
ENST00000620057.4:c.*987C>G	ENSP00000481988.1:n.*987C>G
NM_000465.3:c.2321C>G	NP_000456.2:p.Pro774Arg
NM_001282543.1:c.2264C>G	NP_001269472.1:p.Pro755Arg
NM_001282545.1:c.968C>G	NP_001269474.1:p.Pro323Arg
NM_001282548.1:c.911C>G	NP_001269477.1:p.Pro304Arg
NM_001282549.1:c.782C>G	NP_001269478.1:p.Pro261Arg
NR_104212.1:n.2314C>G
NR_104215.1:n.2257C>G
NR_104216.1:n.1513C>G
XM_011511567.1:c.2267C>G	XP_011509869.1:p.Pro756Arg
XM_017004613.1:c.2420C>G	XP_016860102.1:p.Pro807Arg
XR_002959322.1:n.2687C>G
NM_000465.4:c.2321C>G MANE Select	NP_000456.2:p.Pro774Arg
NM_001282543.2:c.2264C>G	NP_001269472.1:p.Pro755Arg
NM_001282545.2:c.968C>G	NP_001269474.1:p.Pro323Arg
NM_001282548.2:c.911C>G	NP_001269477.1:p.Pro304Arg
NM_001282549.2:c.782C>G	NP_001269478.1:p.Pro261Arg
NR_104212.2:n.2286C>G
NR_104215.2:n.2229C>G
NR_104216.2:n.1485C>G