Canonical Allele Identifier: CA350451128

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595158T>G (hg19) ; chr2:g.214730434T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730434T>G , CM000664.2:g.214730434T>G	GRCh38
NC_000002.11:g.215595158T>G , CM000664.1:g.215595158T>G	GRCh37
NC_000002.10:g.215303403T>G	NCBI36
NG_012047.2:g.84271A>C
NG_012047.3:g.84278A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1978A>C MANE Select	ENSP00000260947.4:p.Ser660Arg
ENST00000421162.2:c.625A>C	ENSP00000392245.2:p.Ser209Arg
ENST00000613192.2:c.*41A>C	ENSP00000483275.2:n.*41A>C
ENST00000613374.5:c.568A>C	ENSP00000484464.1:p.Ser190Arg
ENST00000613706.5:c.1570A>C	ENSP00000484976.2:p.Ser524Arg
ENST00000617164.5:c.1921A>C	ENSP00000480470.1:p.Ser641Arg
ENST00000619009.5:c.439A>C	ENSP00000482293.1:p.Ser147Arg
ENST00000650978.1:c.3353A>C
ENST00000260947.8:c.1978A>C	ENSP00000260947.4:p.Ser660Arg
ENST00000421162.1:c.625A>C	ENSP00000392245.1:p.Ser209Arg
ENST00000432456.5:c.75A>C
ENST00000455743.5:c.*1598A>C	ENSP00000412186.1:n.*1598A>C
ENST00000471590.5:n.313A>C
ENST00000613192.1:c.148A>C	ENSP00000483275.1:p.Ser50Arg
ENST00000613374.4:c.568A>C	ENSP00000484464.1:p.Ser190Arg
ENST00000613706.4:c.625A>C	ENSP00000484976.1:p.Ser209Arg
ENST00000617164.4:c.1921A>C	ENSP00000480470.1:p.Ser641Arg
ENST00000619009.4:c.439A>C	ENSP00000482293.1:p.Ser147Arg
ENST00000620057.4:c.*644A>C	ENSP00000481988.1:n.*644A>C
NM_000465.3:c.1978A>C	NP_000456.2:p.Ser660Arg
NM_001282543.1:c.1921A>C	NP_001269472.1:p.Ser641Arg
NM_001282545.1:c.625A>C	NP_001269474.1:p.Ser209Arg
NM_001282548.1:c.568A>C	NP_001269477.1:p.Ser190Arg
NM_001282549.1:c.439A>C	NP_001269478.1:p.Ser147Arg
NR_104212.1:n.1971A>C
NR_104215.1:n.1914A>C
NR_104216.1:n.1170A>C
XM_011511567.1:c.1924A>C	XP_011509869.1:p.Ser642Arg
XM_017004613.1:c.2077A>C	XP_016860102.1:p.Ser693Arg
XR_002959322.1:n.2168A>C
NM_000465.4:c.1978A>C MANE Select	NP_000456.2:p.Ser660Arg
NM_001282543.2:c.1921A>C	NP_001269472.1:p.Ser641Arg
NM_001282545.2:c.625A>C	NP_001269474.1:p.Ser209Arg
NM_001282548.2:c.568A>C	NP_001269477.1:p.Ser190Arg
NM_001282549.2:c.439A>C	NP_001269478.1:p.Ser147Arg
NR_104212.2:n.1943A>C
NR_104215.2:n.1886A>C
NR_104216.2:n.1142A>C