Canonical Allele Identifier: CA350453043

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215610518C>A (hg19) ; chr2:g.214745794C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745794C>A , CM000664.2:g.214745794C>A	GRCh38
NC_000002.11:g.215610518C>A , CM000664.1:g.215610518C>A	GRCh37
NC_000002.10:g.215318763C>A	NCBI36
NG_012047.2:g.68911G>T
NG_012047.3:g.68918G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1738G>T MANE Select	ENSP00000260947.4:p.Glu580Ter
ENST00000421162.2:c.385G>T	ENSP00000392245.2:p.Glu129Ter
ENST00000613192.2:c.159-15286G>T	ENSP00000483275.2:n.159-15286G>T
ENST00000613374.5:c.328G>T	ENSP00000484464.1:p.Glu110Ter
ENST00000613706.5:c.1330G>T	ENSP00000484976.2:p.Glu444Ter
ENST00000617164.5:c.1681G>T	ENSP00000480470.1:p.Glu561Ter
ENST00000619009.5:c.365-15286G>T	ENSP00000482293.1:n.365-15286G>T
ENST00000650978.1:c.3113G>T
ENST00000260947.8:c.1738G>T	ENSP00000260947.4:p.Glu580Ter
ENST00000421162.1:c.385G>T	ENSP00000392245.1:p.Glu129Ter
ENST00000455743.5:c.*1358G>T	ENSP00000412186.1:n.*1358G>T
ENST00000465841.1:n.93G>T
ENST00000613192.1:c.74-15286G>T	ENSP00000483275.1:n.74-15286G>T
ENST00000613374.4:c.328G>T	ENSP00000484464.1:p.Glu110Ter
ENST00000613706.4:c.385G>T	ENSP00000484976.1:p.Glu129Ter
ENST00000617164.4:c.1681G>T	ENSP00000480470.1:p.Glu561Ter
ENST00000619009.4:c.365-15286G>T	ENSP00000482293.1:n.365-15286G>T
ENST00000620057.4:c.*404G>T	ENSP00000481988.1:n.*404G>T
NM_000465.3:c.1738G>T	NP_000456.2:p.Glu580Ter
NM_001282543.1:c.1681G>T	NP_001269472.1:p.Glu561Ter
NM_001282545.1:c.385G>T	NP_001269474.1:p.Glu129Ter
NM_001282548.1:c.328G>T	NP_001269477.1:p.Glu110Ter
NM_001282549.1:c.365-15286G>T	NP_001269478.1:n.365-15286G>T
NR_104212.1:n.1731G>T
NR_104215.1:n.1674G>T
NR_104216.1:n.930G>T
XM_011511567.1:c.1684G>T	XP_011509869.1:p.Glu562Ter
XM_011511568.1:c.1738G>T	XP_011509870.1:p.Glu580Ter
XM_017004613.1:c.1837G>T	XP_016860102.1:p.Glu613Ter
XM_017004614.1:c.1837G>T	XP_016860103.1:p.Glu613Ter
XR_002959322.1:n.1928G>T
NM_000465.4:c.1738G>T MANE Select	NP_000456.2:p.Glu580Ter
NM_001282543.2:c.1681G>T	NP_001269472.1:p.Glu561Ter
NM_001282545.2:c.385G>T	NP_001269474.1:p.Glu129Ter
NM_001282548.2:c.328G>T	NP_001269477.1:p.Glu110Ter
NM_001282549.2:c.365-15286G>T	NP_001269478.1:n.365-15286G>T
NR_104212.2:n.1703G>T
NR_104215.2:n.1646G>T
NR_104216.2:n.902G>T