Canonical Allele Identifier: CA350453997

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645466T>C (hg19) ; chr2:g.214780742T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780742T>C , CM000664.2:g.214780742T>C	GRCh38
NC_000002.11:g.215645466T>C , CM000664.1:g.215645466T>C	GRCh37
NC_000002.10:g.215353711T>C	NCBI36
NG_012047.2:g.33963A>G
NG_012047.3:g.33970A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1132A>G MANE Select	ENSP00000260947.4:p.Arg378Gly
ENST00000421162.2:c.215+16319A>G	ENSP00000392245.2:n.215+16319A>G
ENST00000613192.2:c.158+28670A>G	ENSP00000483275.2:n.158+28670A>G
ENST00000613374.5:c.159-28187A>G	ENSP00000484464.1:n.159-28187A>G
ENST00000613706.5:c.906+226A>G	ENSP00000484976.2:n.906+226A>G
ENST00000617164.5:c.1075A>G	ENSP00000480470.1:p.Arg359Gly
ENST00000619009.5:c.364+11555A>G	ENSP00000482293.1:n.364+11555A>G
ENST00000650978.1:c.974A>G
ENST00000260947.8:c.1132A>G	ENSP00000260947.4:p.Arg378Gly
ENST00000421162.1:c.215+16319A>G	ENSP00000392245.1:n.215+16319A>G
ENST00000455743.5:c.*752A>G	ENSP00000412186.1:n.*752A>G
ENST00000613192.1:c.73+28670A>G	ENSP00000483275.1:n.73+28670A>G
ENST00000613374.4:c.159-28187A>G	ENSP00000484464.1:n.159-28187A>G
ENST00000613706.4:c.215+16319A>G	ENSP00000484976.1:n.215+16319A>G
ENST00000617164.4:c.1075A>G	ENSP00000480470.1:p.Arg359Gly
ENST00000619009.4:c.364+11555A>G	ENSP00000482293.1:n.364+11555A>G
ENST00000620057.4:c.365-11430A>G	ENSP00000481988.1:n.365-11430A>G
NM_000465.3:c.1132A>G	NP_000456.2:p.Arg378Gly
NM_001282543.1:c.1075A>G	NP_001269472.1:p.Arg359Gly
NM_001282545.1:c.215+16319A>G	NP_001269474.1:n.215+16319A>G
NM_001282548.1:c.159-28187A>G	NP_001269477.1:n.159-28187A>G
NM_001282549.1:c.364+11555A>G	NP_001269478.1:n.364+11555A>G
NR_104212.1:n.1125A>G
NR_104215.1:n.1068A>G
NR_104216.1:n.507-11430A>G
XM_011511567.1:c.1078A>G	XP_011509869.1:p.Arg360Gly
XM_011511568.1:c.1132A>G	XP_011509870.1:p.Arg378Gly
XM_017004613.1:c.1231A>G	XP_016860102.1:p.Arg411Gly
XM_017004614.1:c.1231A>G	XP_016860103.1:p.Arg411Gly
XR_002959322.1:n.1322A>G
NM_000465.4:c.1132A>G MANE Select	NP_000456.2:p.Arg378Gly
NM_001282543.2:c.1075A>G	NP_001269472.1:p.Arg359Gly
NM_001282545.2:c.215+16319A>G	NP_001269474.1:n.215+16319A>G
NM_001282548.2:c.159-28187A>G	NP_001269477.1:n.159-28187A>G
NM_001282549.2:c.364+11555A>G	NP_001269478.1:n.364+11555A>G
NR_104212.2:n.1097A>G
NR_104215.2:n.1040A>G
NR_104216.2:n.479-11430A>G