Canonical Allele Identifier: CA350449773

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728705-A-G
• MyVariant Identifiers: chr2:g.215593429A>G (hg19) ; chr2:g.214728705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728705A>G , CM000664.2:g.214728705A>G	GRCh38
NC_000002.11:g.215593429A>G , CM000664.1:g.215593429A>G	GRCh37
NC_000002.10:g.215301674A>G	NCBI36
NG_012047.2:g.86000T>C
NG_012047.3:g.86007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2305T>C MANE Select	ENSP00000260947.4:p.Ser769Pro
ENST00000421162.2:c.952T>C	ENSP00000392245.2:p.Ser318Pro
ENST00000613192.2:c.*368T>C	ENSP00000483275.2:n.*368T>C
ENST00000613374.5:c.895T>C	ENSP00000484464.1:p.Ser299Pro
ENST00000613706.5:c.1897T>C	ENSP00000484976.2:p.Ser633Pro
ENST00000617164.5:c.2248T>C	ENSP00000480470.1:p.Ser750Pro
ENST00000619009.5:c.766T>C	ENSP00000482293.1:p.Ser256Pro
ENST00000650978.1:c.3680T>C
ENST00000260947.8:c.2305T>C	ENSP00000260947.4:p.Ser769Pro
ENST00000432456.5:c.448T>C
ENST00000455743.5:c.*1925T>C	ENSP00000412186.1:n.*1925T>C
ENST00000471590.5:n.640T>C
ENST00000613192.1:c.475T>C	ENSP00000483275.1:p.Ser159Pro
ENST00000613374.4:c.895T>C	ENSP00000484464.1:p.Ser299Pro
ENST00000613706.4:c.952T>C	ENSP00000484976.1:p.Ser318Pro
ENST00000617164.4:c.2248T>C	ENSP00000480470.1:p.Ser750Pro
ENST00000619009.4:c.766T>C	ENSP00000482293.1:p.Ser256Pro
ENST00000620057.4:c.*971T>C	ENSP00000481988.1:n.*971T>C
NM_000465.3:c.2305T>C	NP_000456.2:p.Ser769Pro
NM_001282543.1:c.2248T>C	NP_001269472.1:p.Ser750Pro
NM_001282545.1:c.952T>C	NP_001269474.1:p.Ser318Pro
NM_001282548.1:c.895T>C	NP_001269477.1:p.Ser299Pro
NM_001282549.1:c.766T>C	NP_001269478.1:p.Ser256Pro
NR_104212.1:n.2298T>C
NR_104215.1:n.2241T>C
NR_104216.1:n.1497T>C
XM_011511567.1:c.2251T>C	XP_011509869.1:p.Ser751Pro
XM_017004613.1:c.2404T>C	XP_016860102.1:p.Ser802Pro
XR_002959322.1:n.2671T>C
NM_000465.4:c.2305T>C MANE Select	NP_000456.2:p.Ser769Pro
NM_001282543.2:c.2248T>C	NP_001269472.1:p.Ser750Pro
NM_001282545.2:c.952T>C	NP_001269474.1:p.Ser318Pro
NM_001282548.2:c.895T>C	NP_001269477.1:p.Ser299Pro
NM_001282549.2:c.766T>C	NP_001269478.1:p.Ser256Pro
NR_104212.2:n.2270T>C
NR_104215.2:n.2213T>C
NR_104216.2:n.1469T>C