Canonical Allele Identifier: CA350460852

Gene: BARD1

Linked Data

• ClinVar Variation Id: 823576
• ClinVar RCV Id: RCV001019936 ; RCV001319137
• dbSNP Id: rs1574839448
• MyVariant Identifiers: chr2:g.215657054G>C (hg19) ; chr2:g.214792330G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792330G>C , CM000664.2:g.214792330G>C	GRCh38
NC_000002.11:g.215657054G>C , CM000664.1:g.215657054G>C	GRCh37
NC_000002.10:g.215365299G>C	NCBI36
NG_012047.2:g.22375C>G
NG_012047.3:g.22382C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.331C>G MANE Select	ENSP00000260947.4:p.Leu111Val
ENST00000421162.2:c.215+4731C>G	ENSP00000392245.2:n.215+4731C>G
ENST00000613192.2:c.158+17082C>G	ENSP00000483275.2:n.158+17082C>G
ENST00000613374.5:c.158+17082C>G	ENSP00000484464.1:n.158+17082C>G
ENST00000613706.5:c.331C>G	ENSP00000484976.2:p.Leu111Val
ENST00000617164.5:c.274C>G	ENSP00000480470.1:p.Leu92Val
ENST00000619009.5:c.331C>G	ENSP00000482293.1:p.Leu111Val
ENST00000650978.1:c.173C>G
ENST00000260947.8:c.331C>G	ENSP00000260947.4:p.Leu111Val
ENST00000421162.1:c.215+4731C>G	ENSP00000392245.1:n.215+4731C>G
ENST00000455743.5:c.215+4731C>G	ENSP00000412186.1:n.215+4731C>G
ENST00000471787.1:n.260-10821C>G
ENST00000613192.1:c.73+17082C>G	ENSP00000483275.1:n.73+17082C>G
ENST00000613374.4:c.158+17082C>G	ENSP00000484464.1:n.158+17082C>G
ENST00000613706.4:c.215+4731C>G	ENSP00000484976.1:n.215+4731C>G
ENST00000617164.4:c.274C>G	ENSP00000480470.1:p.Leu92Val
ENST00000619009.4:c.331C>G	ENSP00000482293.1:p.Leu111Val
ENST00000620057.4:c.331C>G	ENSP00000481988.1:p.Leu111Val
NM_000465.3:c.331C>G	NP_000456.2:p.Leu111Val
NM_001282543.1:c.274C>G	NP_001269472.1:p.Leu92Val
NM_001282545.1:c.215+4731C>G	NP_001269474.1:n.215+4731C>G
NM_001282548.1:c.158+17082C>G	NP_001269477.1:n.158+17082C>G
NM_001282549.1:c.331C>G	NP_001269478.1:p.Leu111Val
NR_104212.1:n.357+4731C>G
NR_104215.1:n.301-10821C>G
NR_104216.1:n.473C>G
XM_011511567.1:c.277C>G	XP_011509869.1:p.Leu93Val
XM_011511568.1:c.331C>G	XP_011509870.1:p.Leu111Val
XM_017004613.1:c.430C>G	XP_016860102.1:p.Leu144Val
XM_017004614.1:c.430C>G	XP_016860103.1:p.Leu144Val
XR_002959322.1:n.521C>G
NM_000465.4:c.331C>G MANE Select	NP_000456.2:p.Leu111Val
NM_001282543.2:c.274C>G	NP_001269472.1:p.Leu92Val
NM_001282545.2:c.215+4731C>G	NP_001269474.1:n.215+4731C>G
NM_001282548.2:c.158+17082C>G	NP_001269477.1:n.158+17082C>G
NM_001282549.2:c.331C>G	NP_001269478.1:p.Leu111Val
NR_104212.2:n.329+4731C>G
NR_104215.2:n.273-10821C>G
NR_104216.2:n.445C>G