Canonical Allele Identifier: CA350453993

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645465C>A (hg19) ; chr2:g.214780741C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780741C>A , CM000664.2:g.214780741C>A	GRCh38
NC_000002.11:g.215645465C>A , CM000664.1:g.215645465C>A	GRCh37
NC_000002.10:g.215353710C>A	NCBI36
NG_012047.2:g.33964G>T
NG_012047.3:g.33971G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1133G>T MANE Select	ENSP00000260947.4:p.Arg378Met
ENST00000421162.2:c.215+16320G>T	ENSP00000392245.2:n.215+16320G>T
ENST00000613192.2:c.158+28671G>T	ENSP00000483275.2:n.158+28671G>T
ENST00000613374.5:c.159-28186G>T	ENSP00000484464.1:n.159-28186G>T
ENST00000613706.5:c.906+227G>T	ENSP00000484976.2:n.906+227G>T
ENST00000617164.5:c.1076G>T	ENSP00000480470.1:p.Arg359Met
ENST00000619009.5:c.364+11556G>T	ENSP00000482293.1:n.364+11556G>T
ENST00000650978.1:c.975G>T
ENST00000260947.8:c.1133G>T	ENSP00000260947.4:p.Arg378Met
ENST00000421162.1:c.215+16320G>T	ENSP00000392245.1:n.215+16320G>T
ENST00000455743.5:c.*753G>T	ENSP00000412186.1:n.*753G>T
ENST00000613192.1:c.73+28671G>T	ENSP00000483275.1:n.73+28671G>T
ENST00000613374.4:c.159-28186G>T	ENSP00000484464.1:n.159-28186G>T
ENST00000613706.4:c.215+16320G>T	ENSP00000484976.1:n.215+16320G>T
ENST00000617164.4:c.1076G>T	ENSP00000480470.1:p.Arg359Met
ENST00000619009.4:c.364+11556G>T	ENSP00000482293.1:n.364+11556G>T
ENST00000620057.4:c.365-11429G>T	ENSP00000481988.1:n.365-11429G>T
NM_000465.3:c.1133G>T	NP_000456.2:p.Arg378Met
NM_001282543.1:c.1076G>T	NP_001269472.1:p.Arg359Met
NM_001282545.1:c.215+16320G>T	NP_001269474.1:n.215+16320G>T
NM_001282548.1:c.159-28186G>T	NP_001269477.1:n.159-28186G>T
NM_001282549.1:c.364+11556G>T	NP_001269478.1:n.364+11556G>T
NR_104212.1:n.1126G>T
NR_104215.1:n.1069G>T
NR_104216.1:n.507-11429G>T
XM_011511567.1:c.1079G>T	XP_011509869.1:p.Arg360Met
XM_011511568.1:c.1133G>T	XP_011509870.1:p.Arg378Met
XM_017004613.1:c.1232G>T	XP_016860102.1:p.Arg411Met
XM_017004614.1:c.1232G>T	XP_016860103.1:p.Arg411Met
XR_002959322.1:n.1323G>T
NM_000465.4:c.1133G>T MANE Select	NP_000456.2:p.Arg378Met
NM_001282543.2:c.1076G>T	NP_001269472.1:p.Arg359Met
NM_001282545.2:c.215+16320G>T	NP_001269474.1:n.215+16320G>T
NM_001282548.2:c.159-28186G>T	NP_001269477.1:n.159-28186G>T
NM_001282549.2:c.364+11556G>T	NP_001269478.1:n.364+11556G>T
NR_104212.2:n.1098G>T
NR_104215.2:n.1041G>T
NR_104216.2:n.479-11429G>T