Canonical Allele Identifier: CA431393528

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728868-A-C
• MyVariant Identifiers: chr2:g.215593592A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728868A>C , CM000664.2:g.214728868A>C	GRCh38
NC_000002.11:g.215593592A>C , CM000664.1:g.215593592A>C	GRCh37
NC_000002.10:g.215301837A>C	NCBI36
NG_012047.2:g.85837T>G
NG_012047.3:g.85844T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2142T>G MANE Select	ENSP00000260947.4:p.Thr714=
ENST00000421162.2:c.789T>G	ENSP00000392245.2:p.Thr263=
ENST00000613192.2:c.*205T>G	ENSP00000483275.2:n.*205T>G
ENST00000613374.5:c.732T>G	ENSP00000484464.1:p.Thr244=
ENST00000613706.5:c.1734T>G	ENSP00000484976.2:p.Thr578=
ENST00000617164.5:c.2085T>G	ENSP00000480470.1:p.Thr695=
ENST00000619009.5:c.603T>G	ENSP00000482293.1:p.Thr201=
ENST00000650978.1:c.3517T>G
ENST00000260947.8:c.2142T>G	ENSP00000260947.4:p.Thr714=
ENST00000432456.5:c.285T>G
ENST00000455743.5:c.*1762T>G	ENSP00000412186.1:n.*1762T>G
ENST00000471590.5:n.477T>G
ENST00000613192.1:c.312T>G	ENSP00000483275.1:p.Thr104=
ENST00000613374.4:c.732T>G	ENSP00000484464.1:p.Thr244=
ENST00000613706.4:c.789T>G	ENSP00000484976.1:p.Thr263=
ENST00000617164.4:c.2085T>G	ENSP00000480470.1:p.Thr695=
ENST00000619009.4:c.603T>G	ENSP00000482293.1:p.Thr201=
ENST00000620057.4:c.*808T>G	ENSP00000481988.1:n.*808T>G
NM_000465.3:c.2142T>G	NP_000456.2:p.Thr714=
NM_001282543.1:c.2085T>G	NP_001269472.1:p.Thr695=
NM_001282545.1:c.789T>G	NP_001269474.1:p.Thr263=
NM_001282548.1:c.732T>G	NP_001269477.1:p.Thr244=
NM_001282549.1:c.603T>G	NP_001269478.1:p.Thr201=
NR_104212.1:n.2135T>G
NR_104215.1:n.2078T>G
NR_104216.1:n.1334T>G
XM_011511567.1:c.2088T>G	XP_011509869.1:p.Thr696=
XM_017004613.1:c.2241T>G	XP_016860102.1:p.Thr747=
XR_002959322.1:n.2508T>G
NM_000465.4:c.2142T>G MANE Select	NP_000456.2:p.Thr714=
NM_001282543.2:c.2085T>G	NP_001269472.1:p.Thr695=
NM_001282545.2:c.789T>G	NP_001269474.1:p.Thr263=
NM_001282548.2:c.732T>G	NP_001269477.1:p.Thr244=
NM_001282549.2:c.603T>G	NP_001269478.1:p.Thr201=
NR_104212.2:n.2107T>G
NR_104215.2:n.2050T>G
NR_104216.2:n.1306T>G