Canonical Allele Identifier: CA350451112

Gene: BARD1

Linked Data

• ClinVar Variation Id: 489662
• ClinVar RCV Id: RCV000580545
• dbSNP Id: rs556775078
• MyVariant Identifiers: chr2:g.215595151A>G (hg19) ; chr2:g.214730427A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730427A>G , CM000664.2:g.214730427A>G	GRCh38
NC_000002.11:g.215595151A>G , CM000664.1:g.215595151A>G	GRCh37
NC_000002.10:g.215303396A>G	NCBI36
NG_012047.2:g.84278T>C
NG_012047.3:g.84285T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1985T>C MANE Select	ENSP00000260947.4:p.Leu662Pro
ENST00000421162.2:c.632T>C	ENSP00000392245.2:p.Leu211Pro
ENST00000613192.2:c.*48T>C	ENSP00000483275.2:n.*48T>C
ENST00000613374.5:c.575T>C	ENSP00000484464.1:p.Leu192Pro
ENST00000613706.5:c.1577T>C	ENSP00000484976.2:p.Leu526Pro
ENST00000617164.5:c.1928T>C	ENSP00000480470.1:p.Leu643Pro
ENST00000619009.5:c.446T>C	ENSP00000482293.1:p.Leu149Pro
ENST00000650978.1:c.3360T>C
ENST00000260947.8:c.1985T>C	ENSP00000260947.4:p.Leu662Pro
ENST00000421162.1:c.632T>C	ENSP00000392245.1:p.Leu211Pro
ENST00000432456.5:c.82T>C
ENST00000455743.5:c.*1605T>C	ENSP00000412186.1:n.*1605T>C
ENST00000471590.5:n.320T>C
ENST00000613192.1:c.155T>C	ENSP00000483275.1:p.Leu52Pro
ENST00000613374.4:c.575T>C	ENSP00000484464.1:p.Leu192Pro
ENST00000613706.4:c.632T>C	ENSP00000484976.1:p.Leu211Pro
ENST00000617164.4:c.1928T>C	ENSP00000480470.1:p.Leu643Pro
ENST00000619009.4:c.446T>C	ENSP00000482293.1:p.Leu149Pro
ENST00000620057.4:c.*651T>C	ENSP00000481988.1:n.*651T>C
NM_000465.3:c.1985T>C	NP_000456.2:p.Leu662Pro
NM_001282543.1:c.1928T>C	NP_001269472.1:p.Leu643Pro
NM_001282545.1:c.632T>C	NP_001269474.1:p.Leu211Pro
NM_001282548.1:c.575T>C	NP_001269477.1:p.Leu192Pro
NM_001282549.1:c.446T>C	NP_001269478.1:p.Leu149Pro
NR_104212.1:n.1978T>C
NR_104215.1:n.1921T>C
NR_104216.1:n.1177T>C
XM_011511567.1:c.1931T>C	XP_011509869.1:p.Leu644Pro
XM_017004613.1:c.2084T>C	XP_016860102.1:p.Leu695Pro
XR_002959322.1:n.2175T>C
NM_000465.4:c.1985T>C MANE Select	NP_000456.2:p.Leu662Pro
NM_001282543.2:c.1928T>C	NP_001269472.1:p.Leu643Pro
NM_001282545.2:c.632T>C	NP_001269474.1:p.Leu211Pro
NM_001282548.2:c.575T>C	NP_001269477.1:p.Leu192Pro
NM_001282549.2:c.446T>C	NP_001269478.1:p.Leu149Pro
NR_104212.2:n.1950T>C
NR_104215.2:n.1893T>C
NR_104216.2:n.1149T>C