Canonical Allele Identifier: CA350449964

Gene: BARD1

Linked Data

• ClinVar Variation Id: 530080
• ClinVar RCV Id: RCV000635704 ; RCV002448968
• dbSNP Id: rs1553612049
• MyVariant Identifiers: chr2:g.215593470A>G (hg19) ; chr2:g.214728746A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728746A>G , CM000664.2:g.214728746A>G	GRCh38
NC_000002.11:g.215593470A>G , CM000664.1:g.215593470A>G	GRCh37
NC_000002.10:g.215301715A>G	NCBI36
NG_012047.2:g.85959T>C
NG_012047.3:g.85966T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2264T>C MANE Select	ENSP00000260947.4:p.Val755Ala
ENST00000421162.2:c.911T>C	ENSP00000392245.2:p.Val304Ala
ENST00000613192.2:c.*327T>C	ENSP00000483275.2:n.*327T>C
ENST00000613374.5:c.854T>C	ENSP00000484464.1:p.Val285Ala
ENST00000613706.5:c.1856T>C	ENSP00000484976.2:p.Val619Ala
ENST00000617164.5:c.2207T>C	ENSP00000480470.1:p.Val736Ala
ENST00000619009.5:c.725T>C	ENSP00000482293.1:p.Val242Ala
ENST00000650978.1:c.3639T>C
ENST00000260947.8:c.2264T>C	ENSP00000260947.4:p.Val755Ala
ENST00000432456.5:c.407T>C
ENST00000455743.5:c.*1884T>C	ENSP00000412186.1:n.*1884T>C
ENST00000471590.5:n.599T>C
ENST00000613192.1:c.434T>C	ENSP00000483275.1:p.Val145Ala
ENST00000613374.4:c.854T>C	ENSP00000484464.1:p.Val285Ala
ENST00000613706.4:c.911T>C	ENSP00000484976.1:p.Val304Ala
ENST00000617164.4:c.2207T>C	ENSP00000480470.1:p.Val736Ala
ENST00000619009.4:c.725T>C	ENSP00000482293.1:p.Val242Ala
ENST00000620057.4:c.*930T>C	ENSP00000481988.1:n.*930T>C
NM_000465.3:c.2264T>C	NP_000456.2:p.Val755Ala
NM_001282543.1:c.2207T>C	NP_001269472.1:p.Val736Ala
NM_001282545.1:c.911T>C	NP_001269474.1:p.Val304Ala
NM_001282548.1:c.854T>C	NP_001269477.1:p.Val285Ala
NM_001282549.1:c.725T>C	NP_001269478.1:p.Val242Ala
NR_104212.1:n.2257T>C
NR_104215.1:n.2200T>C
NR_104216.1:n.1456T>C
XM_011511567.1:c.2210T>C	XP_011509869.1:p.Val737Ala
XM_017004613.1:c.2363T>C	XP_016860102.1:p.Val788Ala
XR_002959322.1:n.2630T>C
NM_000465.4:c.2264T>C MANE Select	NP_000456.2:p.Val755Ala
NM_001282543.2:c.2207T>C	NP_001269472.1:p.Val736Ala
NM_001282545.2:c.911T>C	NP_001269474.1:p.Val304Ala
NM_001282548.2:c.854T>C	NP_001269477.1:p.Val285Ala
NM_001282549.2:c.725T>C	NP_001269478.1:p.Val242Ala
NR_104212.2:n.2229T>C
NR_104215.2:n.2172T>C
NR_104216.2:n.1428T>C