Canonical Allele Identifier: CA350449873

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593444T>G (hg19) ; chr2:g.214728720T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728720T>G , CM000664.2:g.214728720T>G	GRCh38
NC_000002.11:g.215593444T>G , CM000664.1:g.215593444T>G	GRCh37
NC_000002.10:g.215301689T>G	NCBI36
NG_012047.2:g.85985A>C
NG_012047.3:g.85992A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2290A>C MANE Select	ENSP00000260947.4:p.Ile764Leu
ENST00000421162.2:c.937A>C	ENSP00000392245.2:p.Ile313Leu
ENST00000613192.2:c.*353A>C	ENSP00000483275.2:n.*353A>C
ENST00000613374.5:c.880A>C	ENSP00000484464.1:p.Ile294Leu
ENST00000613706.5:c.1882A>C	ENSP00000484976.2:p.Ile628Leu
ENST00000617164.5:c.2233A>C	ENSP00000480470.1:p.Ile745Leu
ENST00000619009.5:c.751A>C	ENSP00000482293.1:p.Ile251Leu
ENST00000650978.1:c.3665A>C
ENST00000260947.8:c.2290A>C	ENSP00000260947.4:p.Ile764Leu
ENST00000432456.5:c.433A>C
ENST00000455743.5:c.*1910A>C	ENSP00000412186.1:n.*1910A>C
ENST00000471590.5:n.625A>C
ENST00000613192.1:c.460A>C	ENSP00000483275.1:p.Ile154Leu
ENST00000613374.4:c.880A>C	ENSP00000484464.1:p.Ile294Leu
ENST00000613706.4:c.937A>C	ENSP00000484976.1:p.Ile313Leu
ENST00000617164.4:c.2233A>C	ENSP00000480470.1:p.Ile745Leu
ENST00000619009.4:c.751A>C	ENSP00000482293.1:p.Ile251Leu
ENST00000620057.4:c.*956A>C	ENSP00000481988.1:n.*956A>C
NM_000465.3:c.2290A>C	NP_000456.2:p.Ile764Leu
NM_001282543.1:c.2233A>C	NP_001269472.1:p.Ile745Leu
NM_001282545.1:c.937A>C	NP_001269474.1:p.Ile313Leu
NM_001282548.1:c.880A>C	NP_001269477.1:p.Ile294Leu
NM_001282549.1:c.751A>C	NP_001269478.1:p.Ile251Leu
NR_104212.1:n.2283A>C
NR_104215.1:n.2226A>C
NR_104216.1:n.1482A>C
XM_011511567.1:c.2236A>C	XP_011509869.1:p.Ile746Leu
XM_017004613.1:c.2389A>C	XP_016860102.1:p.Ile797Leu
XR_002959322.1:n.2656A>C
NM_000465.4:c.2290A>C MANE Select	NP_000456.2:p.Ile764Leu
NM_001282543.2:c.2233A>C	NP_001269472.1:p.Ile745Leu
NM_001282545.2:c.937A>C	NP_001269474.1:p.Ile313Leu
NM_001282548.2:c.880A>C	NP_001269477.1:p.Ile294Leu
NM_001282549.2:c.751A>C	NP_001269478.1:p.Ile251Leu
NR_104212.2:n.2255A>C
NR_104215.2:n.2198A>C
NR_104216.2:n.1454A>C