Canonical Allele Identifier: CA350450423

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593569T>G (hg19) ; chr2:g.214728845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728845T>G , CM000664.2:g.214728845T>G	GRCh38
NC_000002.11:g.215593569T>G , CM000664.1:g.215593569T>G	GRCh37
NC_000002.10:g.215301814T>G	NCBI36
NG_012047.2:g.85860A>C
NG_012047.3:g.85867A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2165A>C MANE Select	ENSP00000260947.4:p.Tyr722Ser
ENST00000421162.2:c.812A>C	ENSP00000392245.2:p.Tyr271Ser
ENST00000613192.2:c.*228A>C	ENSP00000483275.2:n.*228A>C
ENST00000613374.5:c.755A>C	ENSP00000484464.1:p.Tyr252Ser
ENST00000613706.5:c.1757A>C	ENSP00000484976.2:p.Tyr586Ser
ENST00000617164.5:c.2108A>C	ENSP00000480470.1:p.Tyr703Ser
ENST00000619009.5:c.626A>C	ENSP00000482293.1:p.Tyr209Ser
ENST00000650978.1:c.3540A>C
ENST00000260947.8:c.2165A>C	ENSP00000260947.4:p.Tyr722Ser
ENST00000432456.5:c.308A>C
ENST00000455743.5:c.*1785A>C	ENSP00000412186.1:n.*1785A>C
ENST00000471590.5:n.500A>C
ENST00000613192.1:c.335A>C	ENSP00000483275.1:p.Tyr112Ser
ENST00000613374.4:c.755A>C	ENSP00000484464.1:p.Tyr252Ser
ENST00000613706.4:c.812A>C	ENSP00000484976.1:p.Tyr271Ser
ENST00000617164.4:c.2108A>C	ENSP00000480470.1:p.Tyr703Ser
ENST00000619009.4:c.626A>C	ENSP00000482293.1:p.Tyr209Ser
ENST00000620057.4:c.*831A>C	ENSP00000481988.1:n.*831A>C
NM_000465.3:c.2165A>C	NP_000456.2:p.Tyr722Ser
NM_001282543.1:c.2108A>C	NP_001269472.1:p.Tyr703Ser
NM_001282545.1:c.812A>C	NP_001269474.1:p.Tyr271Ser
NM_001282548.1:c.755A>C	NP_001269477.1:p.Tyr252Ser
NM_001282549.1:c.626A>C	NP_001269478.1:p.Tyr209Ser
NR_104212.1:n.2158A>C
NR_104215.1:n.2101A>C
NR_104216.1:n.1357A>C
XM_011511567.1:c.2111A>C	XP_011509869.1:p.Tyr704Ser
XM_017004613.1:c.2264A>C	XP_016860102.1:p.Tyr755Ser
XR_002959322.1:n.2531A>C
NM_000465.4:c.2165A>C MANE Select	NP_000456.2:p.Tyr722Ser
NM_001282543.2:c.2108A>C	NP_001269472.1:p.Tyr703Ser
NM_001282545.2:c.812A>C	NP_001269474.1:p.Tyr271Ser
NM_001282548.2:c.755A>C	NP_001269477.1:p.Tyr252Ser
NM_001282549.2:c.626A>C	NP_001269478.1:p.Tyr209Ser
NR_104212.2:n.2130A>C
NR_104215.2:n.2073A>C
NR_104216.2:n.1329A>C