Canonical Allele Identifier: CA350451175

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595185A>G (hg19) ; chr2:g.214730461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730461A>G , CM000664.2:g.214730461A>G	GRCh38
NC_000002.11:g.215595185A>G , CM000664.1:g.215595185A>G	GRCh37
NC_000002.10:g.215303430A>G	NCBI36
NG_012047.2:g.84244T>C
NG_012047.3:g.84251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1951T>C MANE Select	ENSP00000260947.4:p.Tyr651His
ENST00000421162.2:c.598T>C	ENSP00000392245.2:p.Tyr200His
ENST00000613192.2:c.*14T>C	ENSP00000483275.2:n.*14T>C
ENST00000613374.5:c.541T>C	ENSP00000484464.1:p.Tyr181His
ENST00000613706.5:c.1543T>C	ENSP00000484976.2:p.Tyr515His
ENST00000617164.5:c.1894T>C	ENSP00000480470.1:p.Tyr632His
ENST00000619009.5:c.412T>C	ENSP00000482293.1:p.Tyr138His
ENST00000650978.1:c.3326T>C
ENST00000260947.8:c.1951T>C	ENSP00000260947.4:p.Tyr651His
ENST00000421162.1:c.598T>C	ENSP00000392245.1:p.Tyr200His
ENST00000432456.5:c.48T>C
ENST00000455743.5:c.*1571T>C	ENSP00000412186.1:n.*1571T>C
ENST00000471590.5:n.286T>C
ENST00000613192.1:c.121T>C	ENSP00000483275.1:p.Tyr41His
ENST00000613374.4:c.541T>C	ENSP00000484464.1:p.Tyr181His
ENST00000613706.4:c.598T>C	ENSP00000484976.1:p.Tyr200His
ENST00000617164.4:c.1894T>C	ENSP00000480470.1:p.Tyr632His
ENST00000619009.4:c.412T>C	ENSP00000482293.1:p.Tyr138His
ENST00000620057.4:c.*617T>C	ENSP00000481988.1:n.*617T>C
NM_000465.3:c.1951T>C	NP_000456.2:p.Tyr651His
NM_001282543.1:c.1894T>C	NP_001269472.1:p.Tyr632His
NM_001282545.1:c.598T>C	NP_001269474.1:p.Tyr200His
NM_001282548.1:c.541T>C	NP_001269477.1:p.Tyr181His
NM_001282549.1:c.412T>C	NP_001269478.1:p.Tyr138His
NR_104212.1:n.1944T>C
NR_104215.1:n.1887T>C
NR_104216.1:n.1143T>C
XM_011511567.1:c.1897T>C	XP_011509869.1:p.Tyr633His
XM_017004613.1:c.2050T>C	XP_016860102.1:p.Tyr684His
XR_002959322.1:n.2141T>C
NM_000465.4:c.1951T>C MANE Select	NP_000456.2:p.Tyr651His
NM_001282543.2:c.1894T>C	NP_001269472.1:p.Tyr632His
NM_001282545.2:c.598T>C	NP_001269474.1:p.Tyr200His
NM_001282548.2:c.541T>C	NP_001269477.1:p.Tyr181His
NM_001282549.2:c.412T>C	NP_001269478.1:p.Tyr138His
NR_104212.2:n.1916T>C
NR_104215.2:n.1859T>C
NR_104216.2:n.1115T>C