Canonical Allele Identifier: CA350450094

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593505A>T (hg19) ; chr2:g.214728781A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728781A>T , CM000664.2:g.214728781A>T	GRCh38
NC_000002.11:g.215593505A>T , CM000664.1:g.215593505A>T	GRCh37
NC_000002.10:g.215301750A>T	NCBI36
NG_012047.2:g.85924T>A
NG_012047.3:g.85931T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2229T>A MANE Select	ENSP00000260947.4:p.Cys743Ter
ENST00000421162.2:c.876T>A	ENSP00000392245.2:p.Cys292Ter
ENST00000613192.2:c.*292T>A	ENSP00000483275.2:n.*292T>A
ENST00000613374.5:c.819T>A	ENSP00000484464.1:p.Cys273Ter
ENST00000613706.5:c.1821T>A	ENSP00000484976.2:p.Cys607Ter
ENST00000617164.5:c.2172T>A	ENSP00000480470.1:p.Cys724Ter
ENST00000619009.5:c.690T>A	ENSP00000482293.1:p.Cys230Ter
ENST00000650978.1:c.3604T>A
ENST00000260947.8:c.2229T>A	ENSP00000260947.4:p.Cys743Ter
ENST00000432456.5:c.372T>A
ENST00000455743.5:c.*1849T>A	ENSP00000412186.1:n.*1849T>A
ENST00000471590.5:n.564T>A
ENST00000613192.1:c.399T>A	ENSP00000483275.1:p.Cys133Ter
ENST00000613374.4:c.819T>A	ENSP00000484464.1:p.Cys273Ter
ENST00000613706.4:c.876T>A	ENSP00000484976.1:p.Cys292Ter
ENST00000617164.4:c.2172T>A	ENSP00000480470.1:p.Cys724Ter
ENST00000619009.4:c.690T>A	ENSP00000482293.1:p.Cys230Ter
ENST00000620057.4:c.*895T>A	ENSP00000481988.1:n.*895T>A
NM_000465.3:c.2229T>A	NP_000456.2:p.Cys743Ter
NM_001282543.1:c.2172T>A	NP_001269472.1:p.Cys724Ter
NM_001282545.1:c.876T>A	NP_001269474.1:p.Cys292Ter
NM_001282548.1:c.819T>A	NP_001269477.1:p.Cys273Ter
NM_001282549.1:c.690T>A	NP_001269478.1:p.Cys230Ter
NR_104212.1:n.2222T>A
NR_104215.1:n.2165T>A
NR_104216.1:n.1421T>A
XM_011511567.1:c.2175T>A	XP_011509869.1:p.Cys725Ter
XM_017004613.1:c.2328T>A	XP_016860102.1:p.Cys776Ter
XR_002959322.1:n.2595T>A
NM_000465.4:c.2229T>A MANE Select	NP_000456.2:p.Cys743Ter
NM_001282543.2:c.2172T>A	NP_001269472.1:p.Cys724Ter
NM_001282545.2:c.876T>A	NP_001269474.1:p.Cys292Ter
NM_001282548.2:c.819T>A	NP_001269477.1:p.Cys273Ter
NM_001282549.2:c.690T>A	NP_001269478.1:p.Cys230Ter
NR_104212.2:n.2194T>A
NR_104215.2:n.2137T>A
NR_104216.2:n.1393T>A