Canonical Allele Identifier: CA350451252

Gene: BARD1

Linked Data

• ClinVar Variation Id: 3231782
• ClinVar RCV Id: RCV004518497
• MyVariant Identifiers: chr2:g.215595206C>G (hg19) ; chr2:g.214730482C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730482C>G , CM000664.2:g.214730482C>G	GRCh38
NC_000002.11:g.215595206C>G , CM000664.1:g.215595206C>G	GRCh37
NC_000002.10:g.215303451C>G	NCBI36
NG_012047.2:g.84223G>C
NG_012047.3:g.84230G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1930G>C MANE Select	ENSP00000260947.4:p.Val644Leu
ENST00000421162.2:c.577G>C	ENSP00000392245.2:p.Val193Leu
ENST00000613192.2:c.185G>C	ENSP00000483275.2:p.Ser62Thr
ENST00000613374.5:c.520G>C	ENSP00000484464.1:p.Val174Leu
ENST00000613706.5:c.1522G>C	ENSP00000484976.2:p.Val508Leu
ENST00000617164.5:c.1873G>C	ENSP00000480470.1:p.Val625Leu
ENST00000619009.5:c.391G>C	ENSP00000482293.1:p.Val131Leu
ENST00000650978.1:c.3305G>C
ENST00000260947.8:c.1930G>C	ENSP00000260947.4:p.Val644Leu
ENST00000421162.1:c.577G>C	ENSP00000392245.1:p.Val193Leu
ENST00000432456.5:c.27G>C
ENST00000455743.5:c.*1550G>C	ENSP00000412186.1:n.*1550G>C
ENST00000471590.5:n.265G>C
ENST00000613192.1:c.100G>C	ENSP00000483275.1:p.Val34Leu
ENST00000613374.4:c.520G>C	ENSP00000484464.1:p.Val174Leu
ENST00000613706.4:c.577G>C	ENSP00000484976.1:p.Val193Leu
ENST00000617164.4:c.1873G>C	ENSP00000480470.1:p.Val625Leu
ENST00000619009.4:c.391G>C	ENSP00000482293.1:p.Val131Leu
ENST00000620057.4:c.*596G>C	ENSP00000481988.1:n.*596G>C
NM_000465.3:c.1930G>C	NP_000456.2:p.Val644Leu
NM_001282543.1:c.1873G>C	NP_001269472.1:p.Val625Leu
NM_001282545.1:c.577G>C	NP_001269474.1:p.Val193Leu
NM_001282548.1:c.520G>C	NP_001269477.1:p.Val174Leu
NM_001282549.1:c.391G>C	NP_001269478.1:p.Val131Leu
NR_104212.1:n.1923G>C
NR_104215.1:n.1866G>C
NR_104216.1:n.1122G>C
XM_011511567.1:c.1876G>C	XP_011509869.1:p.Val626Leu
XM_017004613.1:c.2029G>C	XP_016860102.1:p.Val677Leu
XR_002959322.1:n.2120G>C
NM_000465.4:c.1930G>C MANE Select	NP_000456.2:p.Val644Leu
NM_001282543.2:c.1873G>C	NP_001269472.1:p.Val625Leu
NM_001282545.2:c.577G>C	NP_001269474.1:p.Val193Leu
NM_001282548.2:c.520G>C	NP_001269477.1:p.Val174Leu
NM_001282549.2:c.391G>C	NP_001269478.1:p.Val131Leu
NR_104212.2:n.1895G>C
NR_104215.2:n.1838G>C
NR_104216.2:n.1094G>C