Canonical Allele Identifier: CA350464828

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1019933
• ClinVar RCV Id: RCV001319437
• dbSNP Id: rs1696454642
• MyVariant Identifiers: chr2:g.215674155G>C (hg19) ; chr2:g.214809431G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809431G>C , CM000664.2:g.214809431G>C	GRCh38
NC_000002.11:g.215674155G>C , CM000664.1:g.215674155G>C	GRCh37
NC_000002.10:g.215382400G>C	NCBI36
NG_012047.2:g.5274C>G
NG_012047.3:g.5281C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.139C>G MANE Select	ENSP00000260947.4:p.Leu47Val
ENST00000421162.2:c.139C>G	ENSP00000392245.2:p.Leu47Val
ENST00000613192.2:c.139C>G	ENSP00000483275.2:p.Leu47Val
ENST00000613374.5:c.139C>G	ENSP00000484464.1:p.Leu47Val
ENST00000613706.5:c.139C>G	ENSP00000484976.2:p.Leu47Val
ENST00000617164.5:c.139C>G	ENSP00000480470.1:p.Leu47Val
ENST00000619009.5:c.139C>G	ENSP00000482293.1:p.Leu47Val
ENST00000260947.8:c.139C>G	ENSP00000260947.4:p.Leu47Val
ENST00000421162.1:c.139C>G	ENSP00000392245.1:p.Leu47Val
ENST00000455743.5:c.139C>G	ENSP00000412186.1:p.Leu47Val
ENST00000471787.1:n.240C>G
ENST00000479904.1:n.230C>G
ENST00000613192.1:c.54C>G	ENSP00000483275.1:p.Ser18Arg
ENST00000613374.4:c.139C>G	ENSP00000484464.1:p.Leu47Val
ENST00000613706.4:c.139C>G	ENSP00000484976.1:p.Leu47Val
ENST00000617164.4:c.139C>G	ENSP00000480470.1:p.Leu47Val
ENST00000619009.4:c.139C>G	ENSP00000482293.1:p.Leu47Val
ENST00000620057.4:c.139C>G	ENSP00000481988.1:p.Leu47Val
NM_000465.3:c.139C>G	NP_000456.2:p.Leu47Val
NM_001282543.1:c.139C>G	NP_001269472.1:p.Leu47Val
NM_001282545.1:c.139C>G	NP_001269474.1:p.Leu47Val
NM_001282548.1:c.139C>G	NP_001269477.1:p.Leu47Val
NM_001282549.1:c.139C>G	NP_001269478.1:p.Leu47Val
NR_104212.1:n.281C>G
NR_104215.1:n.281C>G
NR_104216.1:n.281C>G
XM_011511568.1:c.139C>G	XP_011509870.1:p.Leu47Val
XM_017004613.1:c.139C>G	XP_016860102.1:p.Leu47Val
XM_017004614.1:c.139C>G	XP_016860103.1:p.Leu47Val
XR_002959322.1:n.230C>G
NM_000465.4:c.139C>G MANE Select	NP_000456.2:p.Leu47Val
NM_001282543.2:c.139C>G	NP_001269472.1:p.Leu47Val
NM_001282545.2:c.139C>G	NP_001269474.1:p.Leu47Val
NM_001282548.2:c.139C>G	NP_001269477.1:p.Leu47Val
NM_001282549.2:c.139C>G	NP_001269478.1:p.Leu47Val
NR_104212.2:n.253C>G
NR_104215.2:n.253C>G
NR_104216.2:n.253C>G