Canonical Allele Identifier: CA350461133

Gene: BARD1

Linked Data

• ClinVar Variation Id: 821686
• ClinVar RCV Id: RCV001016346
• dbSNP Id: rs1574839783
• MyVariant Identifiers: chr2:g.215657116G>C (hg19) ; chr2:g.214792392G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792392G>C , CM000664.2:g.214792392G>C	GRCh38
NC_000002.11:g.215657116G>C , CM000664.1:g.215657116G>C	GRCh37
NC_000002.10:g.215365361G>C	NCBI36
NG_012047.2:g.22313C>G
NG_012047.3:g.22320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.269C>G MANE Select	ENSP00000260947.4:p.Ala90Gly
ENST00000421162.2:c.215+4669C>G	ENSP00000392245.2:n.215+4669C>G
ENST00000613192.2:c.158+17020C>G	ENSP00000483275.2:n.158+17020C>G
ENST00000613374.5:c.158+17020C>G	ENSP00000484464.1:n.158+17020C>G
ENST00000613706.5:c.269C>G	ENSP00000484976.2:p.Ala90Gly
ENST00000617164.5:c.212C>G	ENSP00000480470.1:p.Ala71Gly
ENST00000619009.5:c.269C>G	ENSP00000482293.1:p.Ala90Gly
ENST00000650978.1:c.111C>G
ENST00000260947.8:c.269C>G	ENSP00000260947.4:p.Ala90Gly
ENST00000421162.1:c.215+4669C>G	ENSP00000392245.1:n.215+4669C>G
ENST00000455743.5:c.215+4669C>G	ENSP00000412186.1:n.215+4669C>G
ENST00000471787.1:n.260-10883C>G
ENST00000613192.1:c.73+17020C>G	ENSP00000483275.1:n.73+17020C>G
ENST00000613374.4:c.158+17020C>G	ENSP00000484464.1:n.158+17020C>G
ENST00000613706.4:c.215+4669C>G	ENSP00000484976.1:n.215+4669C>G
ENST00000617164.4:c.212C>G	ENSP00000480470.1:p.Ala71Gly
ENST00000619009.4:c.269C>G	ENSP00000482293.1:p.Ala90Gly
ENST00000620057.4:c.269C>G	ENSP00000481988.1:p.Ala90Gly
NM_000465.3:c.269C>G	NP_000456.2:p.Ala90Gly
NM_001282543.1:c.212C>G	NP_001269472.1:p.Ala71Gly
NM_001282545.1:c.215+4669C>G	NP_001269474.1:n.215+4669C>G
NM_001282548.1:c.158+17020C>G	NP_001269477.1:n.158+17020C>G
NM_001282549.1:c.269C>G	NP_001269478.1:p.Ala90Gly
NR_104212.1:n.357+4669C>G
NR_104215.1:n.301-10883C>G
NR_104216.1:n.411C>G
XM_011511567.1:c.215C>G	XP_011509869.1:p.Ala72Gly
XM_011511568.1:c.269C>G	XP_011509870.1:p.Ala90Gly
XM_017004613.1:c.368C>G	XP_016860102.1:p.Ala123Gly
XM_017004614.1:c.368C>G	XP_016860103.1:p.Ala123Gly
XR_002959322.1:n.459C>G
NM_000465.4:c.269C>G MANE Select	NP_000456.2:p.Ala90Gly
NM_001282543.2:c.212C>G	NP_001269472.1:p.Ala71Gly
NM_001282545.2:c.215+4669C>G	NP_001269474.1:n.215+4669C>G
NM_001282548.2:c.158+17020C>G	NP_001269477.1:n.158+17020C>G
NM_001282549.2:c.269C>G	NP_001269478.1:p.Ala90Gly
NR_104212.2:n.329+4669C>G
NR_104215.2:n.273-10883C>G
NR_104216.2:n.383C>G