Canonical Allele Identifier: CA350450475

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2733632
• ClinVar RCV Id: RCV003501673
• MyVariant Identifiers: chr2:g.215593585T>G (hg19) ; chr2:g.214728861T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728861T>G , CM000664.2:g.214728861T>G	GRCh38
NC_000002.11:g.215593585T>G , CM000664.1:g.215593585T>G	GRCh37
NC_000002.10:g.215301830T>G	NCBI36
NG_012047.2:g.85844A>C
NG_012047.3:g.85851A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2149A>C MANE Select	ENSP00000260947.4:p.Ile717Leu
ENST00000421162.2:c.796A>C	ENSP00000392245.2:p.Ile266Leu
ENST00000613192.2:c.*212A>C	ENSP00000483275.2:n.*212A>C
ENST00000613374.5:c.739A>C	ENSP00000484464.1:p.Ile247Leu
ENST00000613706.5:c.1741A>C	ENSP00000484976.2:p.Ile581Leu
ENST00000617164.5:c.2092A>C	ENSP00000480470.1:p.Ile698Leu
ENST00000619009.5:c.610A>C	ENSP00000482293.1:p.Ile204Leu
ENST00000650978.1:c.3524A>C
ENST00000260947.8:c.2149A>C	ENSP00000260947.4:p.Ile717Leu
ENST00000432456.5:c.292A>C
ENST00000455743.5:c.*1769A>C	ENSP00000412186.1:n.*1769A>C
ENST00000471590.5:n.484A>C
ENST00000613192.1:c.319A>C	ENSP00000483275.1:p.Ile107Leu
ENST00000613374.4:c.739A>C	ENSP00000484464.1:p.Ile247Leu
ENST00000613706.4:c.796A>C	ENSP00000484976.1:p.Ile266Leu
ENST00000617164.4:c.2092A>C	ENSP00000480470.1:p.Ile698Leu
ENST00000619009.4:c.610A>C	ENSP00000482293.1:p.Ile204Leu
ENST00000620057.4:c.*815A>C	ENSP00000481988.1:n.*815A>C
NM_000465.3:c.2149A>C	NP_000456.2:p.Ile717Leu
NM_001282543.1:c.2092A>C	NP_001269472.1:p.Ile698Leu
NM_001282545.1:c.796A>C	NP_001269474.1:p.Ile266Leu
NM_001282548.1:c.739A>C	NP_001269477.1:p.Ile247Leu
NM_001282549.1:c.610A>C	NP_001269478.1:p.Ile204Leu
NR_104212.1:n.2142A>C
NR_104215.1:n.2085A>C
NR_104216.1:n.1341A>C
XM_011511567.1:c.2095A>C	XP_011509869.1:p.Ile699Leu
XM_017004613.1:c.2248A>C	XP_016860102.1:p.Ile750Leu
XR_002959322.1:n.2515A>C
NM_000465.4:c.2149A>C MANE Select	NP_000456.2:p.Ile717Leu
NM_001282543.2:c.2092A>C	NP_001269472.1:p.Ile698Leu
NM_001282545.2:c.796A>C	NP_001269474.1:p.Ile266Leu
NM_001282548.2:c.739A>C	NP_001269477.1:p.Ile247Leu
NM_001282549.2:c.610A>C	NP_001269478.1:p.Ile204Leu
NR_104212.2:n.2114A>C
NR_104215.2:n.2057A>C
NR_104216.2:n.1313A>C