Canonical Allele Identifier: CA350449655

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593408C>A (hg19) ; chr2:g.214728684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728684C>A , CM000664.2:g.214728684C>A	GRCh38
NC_000002.11:g.215593408C>A , CM000664.1:g.215593408C>A	GRCh37
NC_000002.10:g.215301653C>A	NCBI36
NG_012047.2:g.86021G>T
NG_012047.3:g.86028G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2326G>T MANE Select	ENSP00000260947.4:p.Asp776Tyr
ENST00000421162.2:c.973G>T	ENSP00000392245.2:p.Asp325Tyr
ENST00000613192.2:c.*389G>T	ENSP00000483275.2:n.*389G>T
ENST00000613374.5:c.916G>T	ENSP00000484464.1:p.Asp306Tyr
ENST00000613706.5:c.1918G>T	ENSP00000484976.2:p.Asp640Tyr
ENST00000617164.5:c.2269G>T	ENSP00000480470.1:p.Asp757Tyr
ENST00000619009.5:c.787G>T	ENSP00000482293.1:p.Asp263Tyr
ENST00000650978.1:c.3701G>T
ENST00000260947.8:c.2326G>T	ENSP00000260947.4:p.Asp776Tyr
ENST00000432456.5:c.469G>T
ENST00000471590.5:n.661G>T
ENST00000613192.1:c.496G>T	ENSP00000483275.1:p.Asp166Tyr
ENST00000613374.4:c.916G>T	ENSP00000484464.1:p.Asp306Tyr
ENST00000613706.4:c.973G>T	ENSP00000484976.1:p.Asp325Tyr
ENST00000617164.4:c.2269G>T	ENSP00000480470.1:p.Asp757Tyr
ENST00000619009.4:c.787G>T	ENSP00000482293.1:p.Asp263Tyr
ENST00000620057.4:c.*992G>T	ENSP00000481988.1:n.*992G>T
NM_000465.3:c.2326G>T	NP_000456.2:p.Asp776Tyr
NM_001282543.1:c.2269G>T	NP_001269472.1:p.Asp757Tyr
NM_001282545.1:c.973G>T	NP_001269474.1:p.Asp325Tyr
NM_001282548.1:c.916G>T	NP_001269477.1:p.Asp306Tyr
NM_001282549.1:c.787G>T	NP_001269478.1:p.Asp263Tyr
NR_104212.1:n.2319G>T
NR_104215.1:n.2262G>T
NR_104216.1:n.1518G>T
XM_011511567.1:c.2272G>T	XP_011509869.1:p.Asp758Tyr
XM_017004613.1:c.2425G>T	XP_016860102.1:p.Asp809Tyr
XR_002959322.1:n.2692G>T
NM_000465.4:c.2326G>T MANE Select	NP_000456.2:p.Asp776Tyr
NM_001282543.2:c.2269G>T	NP_001269472.1:p.Asp757Tyr
NM_001282545.2:c.973G>T	NP_001269474.1:p.Asp325Tyr
NM_001282548.2:c.916G>T	NP_001269477.1:p.Asp306Tyr
NM_001282549.2:c.787G>T	NP_001269478.1:p.Asp263Tyr
NR_104212.2:n.2291G>T
NR_104215.2:n.2234G>T
NR_104216.2:n.1490G>T