Canonical Allele Identifier: CA350450071

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593501A>T (hg19) ; chr2:g.214728777A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728777A>T , CM000664.2:g.214728777A>T	GRCh38
NC_000002.11:g.215593501A>T , CM000664.1:g.215593501A>T	GRCh37
NC_000002.10:g.215301746A>T	NCBI36
NG_012047.2:g.85928T>A
NG_012047.3:g.85935T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2233T>A MANE Select	ENSP00000260947.4:p.Tyr745Asn
ENST00000421162.2:c.880T>A	ENSP00000392245.2:p.Tyr294Asn
ENST00000613192.2:c.*296T>A	ENSP00000483275.2:n.*296T>A
ENST00000613374.5:c.823T>A	ENSP00000484464.1:p.Tyr275Asn
ENST00000613706.5:c.1825T>A	ENSP00000484976.2:p.Tyr609Asn
ENST00000617164.5:c.2176T>A	ENSP00000480470.1:p.Tyr726Asn
ENST00000619009.5:c.694T>A	ENSP00000482293.1:p.Tyr232Asn
ENST00000650978.1:c.3608T>A
ENST00000260947.8:c.2233T>A	ENSP00000260947.4:p.Tyr745Asn
ENST00000432456.5:c.376T>A
ENST00000455743.5:c.*1853T>A	ENSP00000412186.1:n.*1853T>A
ENST00000471590.5:n.568T>A
ENST00000613192.1:c.403T>A	ENSP00000483275.1:p.Tyr135Asn
ENST00000613374.4:c.823T>A	ENSP00000484464.1:p.Tyr275Asn
ENST00000613706.4:c.880T>A	ENSP00000484976.1:p.Tyr294Asn
ENST00000617164.4:c.2176T>A	ENSP00000480470.1:p.Tyr726Asn
ENST00000619009.4:c.694T>A	ENSP00000482293.1:p.Tyr232Asn
ENST00000620057.4:c.*899T>A	ENSP00000481988.1:n.*899T>A
NM_000465.3:c.2233T>A	NP_000456.2:p.Tyr745Asn
NM_001282543.1:c.2176T>A	NP_001269472.1:p.Tyr726Asn
NM_001282545.1:c.880T>A	NP_001269474.1:p.Tyr294Asn
NM_001282548.1:c.823T>A	NP_001269477.1:p.Tyr275Asn
NM_001282549.1:c.694T>A	NP_001269478.1:p.Tyr232Asn
NR_104212.1:n.2226T>A
NR_104215.1:n.2169T>A
NR_104216.1:n.1425T>A
XM_011511567.1:c.2179T>A	XP_011509869.1:p.Tyr727Asn
XM_017004613.1:c.2332T>A	XP_016860102.1:p.Tyr778Asn
XR_002959322.1:n.2599T>A
NM_000465.4:c.2233T>A MANE Select	NP_000456.2:p.Tyr745Asn
NM_001282543.2:c.2176T>A	NP_001269472.1:p.Tyr726Asn
NM_001282545.2:c.880T>A	NP_001269474.1:p.Tyr294Asn
NM_001282548.2:c.823T>A	NP_001269477.1:p.Tyr275Asn
NM_001282549.2:c.694T>A	NP_001269478.1:p.Tyr232Asn
NR_104212.2:n.2198T>A
NR_104215.2:n.2141T>A
NR_104216.2:n.1397T>A