Canonical Allele Identifier: CA350449738

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593423C>T (hg19) ; chr2:g.214728699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728699C>T , CM000664.2:g.214728699C>T	GRCh38
NC_000002.11:g.215593423C>T , CM000664.1:g.215593423C>T	GRCh37
NC_000002.10:g.215301668C>T	NCBI36
NG_012047.2:g.86006G>A
NG_012047.3:g.86013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2311G>A MANE Select	ENSP00000260947.4:p.Glu771Lys
ENST00000421162.2:c.958G>A	ENSP00000392245.2:p.Glu320Lys
ENST00000613192.2:c.*374G>A	ENSP00000483275.2:n.*374G>A
ENST00000613374.5:c.901G>A	ENSP00000484464.1:p.Glu301Lys
ENST00000613706.5:c.1903G>A	ENSP00000484976.2:p.Glu635Lys
ENST00000617164.5:c.2254G>A	ENSP00000480470.1:p.Glu752Lys
ENST00000619009.5:c.772G>A	ENSP00000482293.1:p.Glu258Lys
ENST00000650978.1:c.3686G>A
ENST00000260947.8:c.2311G>A	ENSP00000260947.4:p.Glu771Lys
ENST00000432456.5:c.454G>A
ENST00000471590.5:n.646G>A
ENST00000613192.1:c.481G>A	ENSP00000483275.1:p.Glu161Lys
ENST00000613374.4:c.901G>A	ENSP00000484464.1:p.Glu301Lys
ENST00000613706.4:c.958G>A	ENSP00000484976.1:p.Glu320Lys
ENST00000617164.4:c.2254G>A	ENSP00000480470.1:p.Glu752Lys
ENST00000619009.4:c.772G>A	ENSP00000482293.1:p.Glu258Lys
ENST00000620057.4:c.*977G>A	ENSP00000481988.1:n.*977G>A
NM_000465.3:c.2311G>A	NP_000456.2:p.Glu771Lys
NM_001282543.1:c.2254G>A	NP_001269472.1:p.Glu752Lys
NM_001282545.1:c.958G>A	NP_001269474.1:p.Glu320Lys
NM_001282548.1:c.901G>A	NP_001269477.1:p.Glu301Lys
NM_001282549.1:c.772G>A	NP_001269478.1:p.Glu258Lys
NR_104212.1:n.2304G>A
NR_104215.1:n.2247G>A
NR_104216.1:n.1503G>A
XM_011511567.1:c.2257G>A	XP_011509869.1:p.Glu753Lys
XM_017004613.1:c.2410G>A	XP_016860102.1:p.Glu804Lys
XR_002959322.1:n.2677G>A
NM_000465.4:c.2311G>A MANE Select	NP_000456.2:p.Glu771Lys
NM_001282543.2:c.2254G>A	NP_001269472.1:p.Glu752Lys
NM_001282545.2:c.958G>A	NP_001269474.1:p.Glu320Lys
NM_001282548.2:c.901G>A	NP_001269477.1:p.Glu301Lys
NM_001282549.2:c.772G>A	NP_001269478.1:p.Glu258Lys
NR_104212.2:n.2276G>A
NR_104215.2:n.2219G>A
NR_104216.2:n.1475G>A