Canonical Allele Identifier: CA350450366

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593557G>T (hg19) ; chr2:g.214728833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728833G>T , CM000664.2:g.214728833G>T	GRCh38
NC_000002.11:g.215593557G>T , CM000664.1:g.215593557G>T	GRCh37
NC_000002.10:g.215301802G>T	NCBI36
NG_012047.2:g.85872C>A
NG_012047.3:g.85879C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2177C>A MANE Select	ENSP00000260947.4:p.Pro726His
ENST00000421162.2:c.824C>A	ENSP00000392245.2:p.Pro275His
ENST00000613192.2:c.*240C>A	ENSP00000483275.2:n.*240C>A
ENST00000613374.5:c.767C>A	ENSP00000484464.1:p.Pro256His
ENST00000613706.5:c.1769C>A	ENSP00000484976.2:p.Pro590His
ENST00000617164.5:c.2120C>A	ENSP00000480470.1:p.Pro707His
ENST00000619009.5:c.638C>A	ENSP00000482293.1:p.Pro213His
ENST00000650978.1:c.3552C>A
ENST00000260947.8:c.2177C>A	ENSP00000260947.4:p.Pro726His
ENST00000432456.5:c.320C>A
ENST00000455743.5:c.*1797C>A	ENSP00000412186.1:n.*1797C>A
ENST00000471590.5:n.512C>A
ENST00000613192.1:c.347C>A	ENSP00000483275.1:p.Pro116His
ENST00000613374.4:c.767C>A	ENSP00000484464.1:p.Pro256His
ENST00000613706.4:c.824C>A	ENSP00000484976.1:p.Pro275His
ENST00000617164.4:c.2120C>A	ENSP00000480470.1:p.Pro707His
ENST00000619009.4:c.638C>A	ENSP00000482293.1:p.Pro213His
ENST00000620057.4:c.*843C>A	ENSP00000481988.1:n.*843C>A
NM_000465.3:c.2177C>A	NP_000456.2:p.Pro726His
NM_001282543.1:c.2120C>A	NP_001269472.1:p.Pro707His
NM_001282545.1:c.824C>A	NP_001269474.1:p.Pro275His
NM_001282548.1:c.767C>A	NP_001269477.1:p.Pro256His
NM_001282549.1:c.638C>A	NP_001269478.1:p.Pro213His
NR_104212.1:n.2170C>A
NR_104215.1:n.2113C>A
NR_104216.1:n.1369C>A
XM_011511567.1:c.2123C>A	XP_011509869.1:p.Pro708His
XM_017004613.1:c.2276C>A	XP_016860102.1:p.Pro759His
XR_002959322.1:n.2543C>A
NM_000465.4:c.2177C>A MANE Select	NP_000456.2:p.Pro726His
NM_001282543.2:c.2120C>A	NP_001269472.1:p.Pro707His
NM_001282545.2:c.824C>A	NP_001269474.1:p.Pro275His
NM_001282548.2:c.767C>A	NP_001269477.1:p.Pro256His
NM_001282549.2:c.638C>A	NP_001269478.1:p.Pro213His
NR_104212.2:n.2142C>A
NR_104215.2:n.2085C>A
NR_104216.2:n.1341C>A