Canonical Allele Identifier: CA350449814

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593436A>T (hg19) ; chr2:g.214728712A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728712A>T , CM000664.2:g.214728712A>T	GRCh38
NC_000002.11:g.215593436A>T , CM000664.1:g.215593436A>T	GRCh37
NC_000002.10:g.215301681A>T	NCBI36
NG_012047.2:g.85993T>A
NG_012047.3:g.86000T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2298T>A MANE Select	ENSP00000260947.4:p.Cys766Ter
ENST00000421162.2:c.945T>A	ENSP00000392245.2:p.Cys315Ter
ENST00000613192.2:c.*361T>A	ENSP00000483275.2:n.*361T>A
ENST00000613374.5:c.888T>A	ENSP00000484464.1:p.Cys296Ter
ENST00000613706.5:c.1890T>A	ENSP00000484976.2:p.Cys630Ter
ENST00000617164.5:c.2241T>A	ENSP00000480470.1:p.Cys747Ter
ENST00000619009.5:c.759T>A	ENSP00000482293.1:p.Cys253Ter
ENST00000650978.1:c.3673T>A
ENST00000260947.8:c.2298T>A	ENSP00000260947.4:p.Cys766Ter
ENST00000432456.5:c.441T>A
ENST00000455743.5:c.*1918T>A	ENSP00000412186.1:n.*1918T>A
ENST00000471590.5:n.633T>A
ENST00000613192.1:c.468T>A	ENSP00000483275.1:p.Cys156Ter
ENST00000613374.4:c.888T>A	ENSP00000484464.1:p.Cys296Ter
ENST00000613706.4:c.945T>A	ENSP00000484976.1:p.Cys315Ter
ENST00000617164.4:c.2241T>A	ENSP00000480470.1:p.Cys747Ter
ENST00000619009.4:c.759T>A	ENSP00000482293.1:p.Cys253Ter
ENST00000620057.4:c.*964T>A	ENSP00000481988.1:n.*964T>A
NM_000465.3:c.2298T>A	NP_000456.2:p.Cys766Ter
NM_001282543.1:c.2241T>A	NP_001269472.1:p.Cys747Ter
NM_001282545.1:c.945T>A	NP_001269474.1:p.Cys315Ter
NM_001282548.1:c.888T>A	NP_001269477.1:p.Cys296Ter
NM_001282549.1:c.759T>A	NP_001269478.1:p.Cys253Ter
NR_104212.1:n.2291T>A
NR_104215.1:n.2234T>A
NR_104216.1:n.1490T>A
XM_011511567.1:c.2244T>A	XP_011509869.1:p.Cys748Ter
XM_017004613.1:c.2397T>A	XP_016860102.1:p.Cys799Ter
XR_002959322.1:n.2664T>A
NM_000465.4:c.2298T>A MANE Select	NP_000456.2:p.Cys766Ter
NM_001282543.2:c.2241T>A	NP_001269472.1:p.Cys747Ter
NM_001282545.2:c.945T>A	NP_001269474.1:p.Cys315Ter
NM_001282548.2:c.888T>A	NP_001269477.1:p.Cys296Ter
NM_001282549.2:c.759T>A	NP_001269478.1:p.Cys253Ter
NR_104212.2:n.2263T>A
NR_104215.2:n.2206T>A
NR_104216.2:n.1462T>A