Canonical Allele Identifier: CA350452327

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2663066
• ClinVar RCV Id: RCV003442254 ; RCV003459862
• MyVariant Identifiers: chr2:g.215609872C>G (hg19) ; chr2:g.214745148C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745148C>G , CM000664.2:g.214745148C>G	GRCh38
NC_000002.11:g.215609872C>G , CM000664.1:g.215609872C>G	GRCh37
NC_000002.10:g.215318117C>G	NCBI36
NG_012047.2:g.69557G>C
NG_012047.3:g.69564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1822G>C MANE Select	ENSP00000260947.4:p.Val608Leu
ENST00000421162.2:c.469G>C	ENSP00000392245.2:p.Val157Leu
ENST00000613192.2:c.159-14640G>C	ENSP00000483275.2:n.159-14640G>C
ENST00000613374.5:c.412G>C	ENSP00000484464.1:p.Val138Leu
ENST00000613706.5:c.1414G>C	ENSP00000484976.2:p.Val472Leu
ENST00000617164.5:c.1765G>C	ENSP00000480470.1:p.Val589Leu
ENST00000619009.5:c.365-14640G>C	ENSP00000482293.1:n.365-14640G>C
ENST00000650978.1:c.3197G>C
ENST00000260947.8:c.1822G>C	ENSP00000260947.4:p.Val608Leu
ENST00000421162.1:c.469G>C	ENSP00000392245.1:p.Val157Leu
ENST00000455743.5:c.*1442G>C	ENSP00000412186.1:n.*1442G>C
ENST00000613192.1:c.74-14640G>C	ENSP00000483275.1:n.74-14640G>C
ENST00000613374.4:c.412G>C	ENSP00000484464.1:p.Val138Leu
ENST00000613706.4:c.469G>C	ENSP00000484976.1:p.Val157Leu
ENST00000617164.4:c.1765G>C	ENSP00000480470.1:p.Val589Leu
ENST00000619009.4:c.365-14640G>C	ENSP00000482293.1:n.365-14640G>C
ENST00000620057.4:c.*488G>C	ENSP00000481988.1:n.*488G>C
NM_000465.3:c.1822G>C	NP_000456.2:p.Val608Leu
NM_001282543.1:c.1765G>C	NP_001269472.1:p.Val589Leu
NM_001282545.1:c.469G>C	NP_001269474.1:p.Val157Leu
NM_001282548.1:c.412G>C	NP_001269477.1:p.Val138Leu
NM_001282549.1:c.365-14640G>C	NP_001269478.1:n.365-14640G>C
NR_104212.1:n.1815G>C
NR_104215.1:n.1758G>C
NR_104216.1:n.1014G>C
XM_011511567.1:c.1768G>C	XP_011509869.1:p.Val590Leu
XM_011511568.1:c.1822G>C	XP_011509870.1:p.Val608Leu
XM_017004613.1:c.1921G>C	XP_016860102.1:p.Val641Leu
XM_017004614.1:c.1921G>C	XP_016860103.1:p.Val641Leu
XR_002959322.1:n.2012G>C
NM_000465.4:c.1822G>C MANE Select	NP_000456.2:p.Val608Leu
NM_001282543.2:c.1765G>C	NP_001269472.1:p.Val589Leu
NM_001282545.2:c.469G>C	NP_001269474.1:p.Val157Leu
NM_001282548.2:c.412G>C	NP_001269477.1:p.Val138Leu
NM_001282549.2:c.365-14640G>C	NP_001269478.1:n.365-14640G>C
NR_104212.2:n.1787G>C
NR_104215.2:n.1730G>C
NR_104216.2:n.986G>C