Canonical Allele Identifier: CA350453650

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645372G>T (hg19) ; chr2:g.214780648G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780648G>T , CM000664.2:g.214780648G>T	GRCh38
NC_000002.11:g.215645372G>T , CM000664.1:g.215645372G>T	GRCh37
NC_000002.10:g.215353617G>T	NCBI36
NG_012047.2:g.34057C>A
NG_012047.3:g.34064C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1226C>A MANE Select	ENSP00000260947.4:p.Ser409Tyr
ENST00000421162.2:c.215+16413C>A	ENSP00000392245.2:n.215+16413C>A
ENST00000613192.2:c.158+28764C>A	ENSP00000483275.2:n.158+28764C>A
ENST00000613374.5:c.159-28093C>A	ENSP00000484464.1:n.159-28093C>A
ENST00000613706.5:c.906+320C>A	ENSP00000484976.2:n.906+320C>A
ENST00000617164.5:c.1169C>A	ENSP00000480470.1:p.Ser390Tyr
ENST00000619009.5:c.364+11649C>A	ENSP00000482293.1:n.364+11649C>A
ENST00000650978.1:c.1068C>A
ENST00000260947.8:c.1226C>A	ENSP00000260947.4:p.Ser409Tyr
ENST00000421162.1:c.215+16413C>A	ENSP00000392245.1:n.215+16413C>A
ENST00000455743.5:c.*846C>A	ENSP00000412186.1:n.*846C>A
ENST00000613192.1:c.73+28764C>A	ENSP00000483275.1:n.73+28764C>A
ENST00000613374.4:c.159-28093C>A	ENSP00000484464.1:n.159-28093C>A
ENST00000613706.4:c.215+16413C>A	ENSP00000484976.1:n.215+16413C>A
ENST00000617164.4:c.1169C>A	ENSP00000480470.1:p.Ser390Tyr
ENST00000619009.4:c.364+11649C>A	ENSP00000482293.1:n.364+11649C>A
ENST00000620057.4:c.365-11336C>A	ENSP00000481988.1:n.365-11336C>A
NM_000465.3:c.1226C>A	NP_000456.2:p.Ser409Tyr
NM_001282543.1:c.1169C>A	NP_001269472.1:p.Ser390Tyr
NM_001282545.1:c.215+16413C>A	NP_001269474.1:n.215+16413C>A
NM_001282548.1:c.159-28093C>A	NP_001269477.1:n.159-28093C>A
NM_001282549.1:c.364+11649C>A	NP_001269478.1:n.364+11649C>A
NR_104212.1:n.1219C>A
NR_104215.1:n.1162C>A
NR_104216.1:n.507-11336C>A
XM_011511567.1:c.1172C>A	XP_011509869.1:p.Ser391Tyr
XM_011511568.1:c.1226C>A	XP_011509870.1:p.Ser409Tyr
XM_017004613.1:c.1325C>A	XP_016860102.1:p.Ser442Tyr
XM_017004614.1:c.1325C>A	XP_016860103.1:p.Ser442Tyr
XR_002959322.1:n.1416C>A
NM_000465.4:c.1226C>A MANE Select	NP_000456.2:p.Ser409Tyr
NM_001282543.2:c.1169C>A	NP_001269472.1:p.Ser390Tyr
NM_001282545.2:c.215+16413C>A	NP_001269474.1:n.215+16413C>A
NM_001282548.2:c.159-28093C>A	NP_001269477.1:n.159-28093C>A
NM_001282549.2:c.364+11649C>A	NP_001269478.1:n.364+11649C>A
NR_104212.2:n.1191C>A
NR_104215.2:n.1134C>A
NR_104216.2:n.479-11336C>A