Canonical Allele Identifier: CA350450059

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593499A>C (hg19) ; chr2:g.214728775A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728775A>C , CM000664.2:g.214728775A>C	GRCh38
NC_000002.11:g.215593499A>C , CM000664.1:g.215593499A>C	GRCh37
NC_000002.10:g.215301744A>C	NCBI36
NG_012047.2:g.85930T>G
NG_012047.3:g.85937T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2235T>G MANE Select	ENSP00000260947.4:p.Tyr745Ter
ENST00000421162.2:c.882T>G	ENSP00000392245.2:p.Tyr294Ter
ENST00000613192.2:c.*298T>G	ENSP00000483275.2:n.*298T>G
ENST00000613374.5:c.825T>G	ENSP00000484464.1:p.Tyr275Ter
ENST00000613706.5:c.1827T>G	ENSP00000484976.2:p.Tyr609Ter
ENST00000617164.5:c.2178T>G	ENSP00000480470.1:p.Tyr726Ter
ENST00000619009.5:c.696T>G	ENSP00000482293.1:p.Tyr232Ter
ENST00000650978.1:c.3610T>G
ENST00000260947.8:c.2235T>G	ENSP00000260947.4:p.Tyr745Ter
ENST00000432456.5:c.378T>G
ENST00000455743.5:c.*1855T>G	ENSP00000412186.1:n.*1855T>G
ENST00000471590.5:n.570T>G
ENST00000613192.1:c.405T>G	ENSP00000483275.1:p.Tyr135Ter
ENST00000613374.4:c.825T>G	ENSP00000484464.1:p.Tyr275Ter
ENST00000613706.4:c.882T>G	ENSP00000484976.1:p.Tyr294Ter
ENST00000617164.4:c.2178T>G	ENSP00000480470.1:p.Tyr726Ter
ENST00000619009.4:c.696T>G	ENSP00000482293.1:p.Tyr232Ter
ENST00000620057.4:c.*901T>G	ENSP00000481988.1:n.*901T>G
NM_000465.3:c.2235T>G	NP_000456.2:p.Tyr745Ter
NM_001282543.1:c.2178T>G	NP_001269472.1:p.Tyr726Ter
NM_001282545.1:c.882T>G	NP_001269474.1:p.Tyr294Ter
NM_001282548.1:c.825T>G	NP_001269477.1:p.Tyr275Ter
NM_001282549.1:c.696T>G	NP_001269478.1:p.Tyr232Ter
NR_104212.1:n.2228T>G
NR_104215.1:n.2171T>G
NR_104216.1:n.1427T>G
XM_011511567.1:c.2181T>G	XP_011509869.1:p.Tyr727Ter
XM_017004613.1:c.2334T>G	XP_016860102.1:p.Tyr778Ter
XR_002959322.1:n.2601T>G
NM_000465.4:c.2235T>G MANE Select	NP_000456.2:p.Tyr745Ter
NM_001282543.2:c.2178T>G	NP_001269472.1:p.Tyr726Ter
NM_001282545.2:c.882T>G	NP_001269474.1:p.Tyr294Ter
NM_001282548.2:c.825T>G	NP_001269477.1:p.Tyr275Ter
NM_001282549.2:c.696T>G	NP_001269478.1:p.Tyr232Ter
NR_104212.2:n.2200T>G
NR_104215.2:n.2143T>G
NR_104216.2:n.1399T>G