Canonical Allele Identifier: CA431392392

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593415A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728691A>T , CM000664.2:g.214728691A>T	GRCh38
NC_000002.11:g.215593415A>T , CM000664.1:g.215593415A>T	GRCh37
NC_000002.10:g.215301660A>T	NCBI36
NG_012047.2:g.86014T>A
NG_012047.3:g.86021T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2319T>A MANE Select	ENSP00000260947.4:p.Leu773=
ENST00000421162.2:c.966T>A	ENSP00000392245.2:p.Leu322=
ENST00000613192.2:c.*382T>A	ENSP00000483275.2:n.*382T>A
ENST00000613374.5:c.909T>A	ENSP00000484464.1:p.Leu303=
ENST00000613706.5:c.1911T>A	ENSP00000484976.2:p.Leu637=
ENST00000617164.5:c.2262T>A	ENSP00000480470.1:p.Leu754=
ENST00000619009.5:c.780T>A	ENSP00000482293.1:p.Leu260=
ENST00000650978.1:c.3694T>A
ENST00000260947.8:c.2319T>A	ENSP00000260947.4:p.Leu773=
ENST00000432456.5:c.462T>A
ENST00000471590.5:n.654T>A
ENST00000613192.1:c.489T>A	ENSP00000483275.1:p.Leu163=
ENST00000613374.4:c.909T>A	ENSP00000484464.1:p.Leu303=
ENST00000613706.4:c.966T>A	ENSP00000484976.1:p.Leu322=
ENST00000617164.4:c.2262T>A	ENSP00000480470.1:p.Leu754=
ENST00000619009.4:c.780T>A	ENSP00000482293.1:p.Leu260=
ENST00000620057.4:c.*985T>A	ENSP00000481988.1:n.*985T>A
NM_000465.3:c.2319T>A	NP_000456.2:p.Leu773=
NM_001282543.1:c.2262T>A	NP_001269472.1:p.Leu754=
NM_001282545.1:c.966T>A	NP_001269474.1:p.Leu322=
NM_001282548.1:c.909T>A	NP_001269477.1:p.Leu303=
NM_001282549.1:c.780T>A	NP_001269478.1:p.Leu260=
NR_104212.1:n.2312T>A
NR_104215.1:n.2255T>A
NR_104216.1:n.1511T>A
XM_011511567.1:c.2265T>A	XP_011509869.1:p.Leu755=
XM_017004613.1:c.2418T>A	XP_016860102.1:p.Leu806=
XR_002959322.1:n.2685T>A
NM_000465.4:c.2319T>A MANE Select	NP_000456.2:p.Leu773=
NM_001282543.2:c.2262T>A	NP_001269472.1:p.Leu754=
NM_001282545.2:c.966T>A	NP_001269474.1:p.Leu322=
NM_001282548.2:c.909T>A	NP_001269477.1:p.Leu303=
NM_001282549.2:c.780T>A	NP_001269478.1:p.Leu260=
NR_104212.2:n.2284T>A
NR_104215.2:n.2227T>A
NR_104216.2:n.1483T>A