Canonical Allele Identifier: CA350449639

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593406G>T (hg19) ; chr2:g.214728682G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728682G>T , CM000664.2:g.214728682G>T	GRCh38
NC_000002.11:g.215593406G>T , CM000664.1:g.215593406G>T	GRCh37
NC_000002.10:g.215301651G>T	NCBI36
NG_012047.2:g.86023C>A
NG_012047.3:g.86030C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2328C>A MANE Select	ENSP00000260947.4:p.Asp776Glu
ENST00000421162.2:c.975C>A	ENSP00000392245.2:p.Asp325Glu
ENST00000613192.2:c.*391C>A	ENSP00000483275.2:n.*391C>A
ENST00000613374.5:c.918C>A	ENSP00000484464.1:p.Asp306Glu
ENST00000613706.5:c.1920C>A	ENSP00000484976.2:p.Asp640Glu
ENST00000617164.5:c.2271C>A	ENSP00000480470.1:p.Asp757Glu
ENST00000619009.5:c.789C>A	ENSP00000482293.1:p.Asp263Glu
ENST00000650978.1:c.3703C>A
ENST00000260947.8:c.2328C>A	ENSP00000260947.4:p.Asp776Glu
ENST00000432456.5:c.471C>A
ENST00000471590.5:n.663C>A
ENST00000613192.1:c.498C>A	ENSP00000483275.1:p.Asp166Glu
ENST00000613374.4:c.918C>A	ENSP00000484464.1:p.Asp306Glu
ENST00000613706.4:c.975C>A	ENSP00000484976.1:p.Asp325Glu
ENST00000617164.4:c.2271C>A	ENSP00000480470.1:p.Asp757Glu
ENST00000619009.4:c.789C>A	ENSP00000482293.1:p.Asp263Glu
ENST00000620057.4:c.*994C>A	ENSP00000481988.1:n.*994C>A
NM_000465.3:c.2328C>A	NP_000456.2:p.Asp776Glu
NM_001282543.1:c.2271C>A	NP_001269472.1:p.Asp757Glu
NM_001282545.1:c.975C>A	NP_001269474.1:p.Asp325Glu
NM_001282548.1:c.918C>A	NP_001269477.1:p.Asp306Glu
NM_001282549.1:c.789C>A	NP_001269478.1:p.Asp263Glu
NR_104212.1:n.2321C>A
NR_104215.1:n.2264C>A
NR_104216.1:n.1520C>A
XM_011511567.1:c.2274C>A	XP_011509869.1:p.Asp758Glu
XM_017004613.1:c.2427C>A	XP_016860102.1:p.Asp809Glu
XR_002959322.1:n.2694C>A
NM_000465.4:c.2328C>A MANE Select	NP_000456.2:p.Asp776Glu
NM_001282543.2:c.2271C>A	NP_001269472.1:p.Asp757Glu
NM_001282545.2:c.975C>A	NP_001269474.1:p.Asp325Glu
NM_001282548.2:c.918C>A	NP_001269477.1:p.Asp306Glu
NM_001282549.2:c.789C>A	NP_001269478.1:p.Asp263Glu
NR_104212.2:n.2293C>A
NR_104215.2:n.2236C>A
NR_104216.2:n.1492C>A