Canonical Allele Identifier: CA64792799

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1786671
• ClinVar RCV Id: RCV002430636
• dbSNP Id: rs868183675
• MyVariant Identifiers: chr2:g.215593586G>C (hg19) ; chr2:g.214728862G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728862G>C , CM000664.2:g.214728862G>C	GRCh38
NC_000002.11:g.215593586G>C , CM000664.1:g.215593586G>C	GRCh37
NC_000002.10:g.215301831G>C	NCBI36
NG_012047.2:g.85843C>G
NG_012047.3:g.85850C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2148C>G MANE Select	ENSP00000260947.4:p.Thr716=
ENST00000421162.2:c.795C>G	ENSP00000392245.2:p.Thr265=
ENST00000613192.2:c.*211C>G	ENSP00000483275.2:n.*211C>G
ENST00000613374.5:c.738C>G	ENSP00000484464.1:p.Thr246=
ENST00000613706.5:c.1740C>G	ENSP00000484976.2:p.Thr580=
ENST00000617164.5:c.2091C>G	ENSP00000480470.1:p.Thr697=
ENST00000619009.5:c.609C>G	ENSP00000482293.1:p.Thr203=
ENST00000650978.1:c.3523C>G
ENST00000260947.8:c.2148C>G	ENSP00000260947.4:p.Thr716=
ENST00000432456.5:c.291C>G
ENST00000455743.5:c.*1768C>G	ENSP00000412186.1:n.*1768C>G
ENST00000471590.5:n.483C>G
ENST00000613192.1:c.318C>G	ENSP00000483275.1:p.Thr106=
ENST00000613374.4:c.738C>G	ENSP00000484464.1:p.Thr246=
ENST00000613706.4:c.795C>G	ENSP00000484976.1:p.Thr265=
ENST00000617164.4:c.2091C>G	ENSP00000480470.1:p.Thr697=
ENST00000619009.4:c.609C>G	ENSP00000482293.1:p.Thr203=
ENST00000620057.4:c.*814C>G	ENSP00000481988.1:n.*814C>G
NM_000465.3:c.2148C>G	NP_000456.2:p.Thr716=
NM_001282543.1:c.2091C>G	NP_001269472.1:p.Thr697=
NM_001282545.1:c.795C>G	NP_001269474.1:p.Thr265=
NM_001282548.1:c.738C>G	NP_001269477.1:p.Thr246=
NM_001282549.1:c.609C>G	NP_001269478.1:p.Thr203=
NR_104212.1:n.2141C>G
NR_104215.1:n.2084C>G
NR_104216.1:n.1340C>G
XM_011511567.1:c.2094C>G	XP_011509869.1:p.Thr698=
XM_017004613.1:c.2247C>G	XP_016860102.1:p.Thr749=
XR_002959322.1:n.2514C>G
NM_000465.4:c.2148C>G MANE Select	NP_000456.2:p.Thr716=
NM_001282543.2:c.2091C>G	NP_001269472.1:p.Thr697=
NM_001282545.2:c.795C>G	NP_001269474.1:p.Thr265=
NM_001282548.2:c.738C>G	NP_001269477.1:p.Thr246=
NM_001282549.2:c.609C>G	NP_001269478.1:p.Thr203=
NR_104212.2:n.2113C>G
NR_104215.2:n.2056C>G
NR_104216.2:n.1312C>G