Canonical Allele Identifier: CA350451257

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595207T>G (hg19) ; chr2:g.214730483T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730483T>G , CM000664.2:g.214730483T>G	GRCh38
NC_000002.11:g.215595207T>G , CM000664.1:g.215595207T>G	GRCh37
NC_000002.10:g.215303452T>G	NCBI36
NG_012047.2:g.84222A>C
NG_012047.3:g.84229A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1929A>C MANE Select	ENSP00000260947.4:p.Lys643Asn
ENST00000421162.2:c.576A>C	ENSP00000392245.2:p.Lys192Asn
ENST00000613192.2:c.184A>C	ENSP00000483275.2:p.Ser62Arg
ENST00000613374.5:c.519A>C	ENSP00000484464.1:p.Lys173Asn
ENST00000613706.5:c.1521A>C	ENSP00000484976.2:p.Lys507Asn
ENST00000617164.5:c.1872A>C	ENSP00000480470.1:p.Lys624Asn
ENST00000619009.5:c.390A>C	ENSP00000482293.1:p.Lys130Asn
ENST00000650978.1:c.3304A>C
ENST00000260947.8:c.1929A>C	ENSP00000260947.4:p.Lys643Asn
ENST00000421162.1:c.576A>C	ENSP00000392245.1:p.Lys192Asn
ENST00000432456.5:c.26A>C
ENST00000455743.5:c.*1549A>C	ENSP00000412186.1:n.*1549A>C
ENST00000471590.5:n.264A>C
ENST00000613192.1:c.99A>C	ENSP00000483275.1:p.Lys33Asn
ENST00000613374.4:c.519A>C	ENSP00000484464.1:p.Lys173Asn
ENST00000613706.4:c.576A>C	ENSP00000484976.1:p.Lys192Asn
ENST00000617164.4:c.1872A>C	ENSP00000480470.1:p.Lys624Asn
ENST00000619009.4:c.390A>C	ENSP00000482293.1:p.Lys130Asn
ENST00000620057.4:c.*595A>C	ENSP00000481988.1:n.*595A>C
NM_000465.3:c.1929A>C	NP_000456.2:p.Lys643Asn
NM_001282543.1:c.1872A>C	NP_001269472.1:p.Lys624Asn
NM_001282545.1:c.576A>C	NP_001269474.1:p.Lys192Asn
NM_001282548.1:c.519A>C	NP_001269477.1:p.Lys173Asn
NM_001282549.1:c.390A>C	NP_001269478.1:p.Lys130Asn
NR_104212.1:n.1922A>C
NR_104215.1:n.1865A>C
NR_104216.1:n.1121A>C
XM_011511567.1:c.1875A>C	XP_011509869.1:p.Lys625Asn
XM_017004613.1:c.2028A>C	XP_016860102.1:p.Lys676Asn
XR_002959322.1:n.2119A>C
NM_000465.4:c.1929A>C MANE Select	NP_000456.2:p.Lys643Asn
NM_001282543.2:c.1872A>C	NP_001269472.1:p.Lys624Asn
NM_001282545.2:c.576A>C	NP_001269474.1:p.Lys192Asn
NM_001282548.2:c.519A>C	NP_001269477.1:p.Lys173Asn
NM_001282549.2:c.390A>C	NP_001269478.1:p.Lys130Asn
NR_104212.2:n.1894A>C
NR_104215.2:n.1837A>C
NR_104216.2:n.1093A>C