Canonical Allele Identifier: CA431392621

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593493T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728769T>G , CM000664.2:g.214728769T>G	GRCh38
NC_000002.11:g.215593493T>G , CM000664.1:g.215593493T>G	GRCh37
NC_000002.10:g.215301738T>G	NCBI36
NG_012047.2:g.85936A>C
NG_012047.3:g.85943A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2241A>C MANE Select	ENSP00000260947.4:p.Pro747=
ENST00000421162.2:c.888A>C	ENSP00000392245.2:p.Pro296=
ENST00000613192.2:c.*304A>C	ENSP00000483275.2:n.*304A>C
ENST00000613374.5:c.831A>C	ENSP00000484464.1:p.Pro277=
ENST00000613706.5:c.1833A>C	ENSP00000484976.2:p.Pro611=
ENST00000617164.5:c.2184A>C	ENSP00000480470.1:p.Pro728=
ENST00000619009.5:c.702A>C	ENSP00000482293.1:p.Pro234=
ENST00000650978.1:c.3616A>C
ENST00000260947.8:c.2241A>C	ENSP00000260947.4:p.Pro747=
ENST00000432456.5:c.384A>C
ENST00000455743.5:c.*1861A>C	ENSP00000412186.1:n.*1861A>C
ENST00000471590.5:n.576A>C
ENST00000613192.1:c.411A>C	ENSP00000483275.1:p.Pro137=
ENST00000613374.4:c.831A>C	ENSP00000484464.1:p.Pro277=
ENST00000613706.4:c.888A>C	ENSP00000484976.1:p.Pro296=
ENST00000617164.4:c.2184A>C	ENSP00000480470.1:p.Pro728=
ENST00000619009.4:c.702A>C	ENSP00000482293.1:p.Pro234=
ENST00000620057.4:c.*907A>C	ENSP00000481988.1:n.*907A>C
NM_000465.3:c.2241A>C	NP_000456.2:p.Pro747=
NM_001282543.1:c.2184A>C	NP_001269472.1:p.Pro728=
NM_001282545.1:c.888A>C	NP_001269474.1:p.Pro296=
NM_001282548.1:c.831A>C	NP_001269477.1:p.Pro277=
NM_001282549.1:c.702A>C	NP_001269478.1:p.Pro234=
NR_104212.1:n.2234A>C
NR_104215.1:n.2177A>C
NR_104216.1:n.1433A>C
XM_011511567.1:c.2187A>C	XP_011509869.1:p.Pro729=
XM_017004613.1:c.2340A>C	XP_016860102.1:p.Pro780=
XR_002959322.1:n.2607A>C
NM_000465.4:c.2241A>C MANE Select	NP_000456.2:p.Pro747=
NM_001282543.2:c.2184A>C	NP_001269472.1:p.Pro728=
NM_001282545.2:c.888A>C	NP_001269474.1:p.Pro296=
NM_001282548.2:c.831A>C	NP_001269477.1:p.Pro277=
NM_001282549.2:c.702A>C	NP_001269478.1:p.Pro234=
NR_104212.2:n.2206A>C
NR_104215.2:n.2149A>C
NR_104216.2:n.1405A>C