Canonical Allele Identifier: CA350449886

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593446A>G (hg19) ; chr2:g.214728722A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728722A>G , CM000664.2:g.214728722A>G	GRCh38
NC_000002.11:g.215593446A>G , CM000664.1:g.215593446A>G	GRCh37
NC_000002.10:g.215301691A>G	NCBI36
NG_012047.2:g.85983T>C
NG_012047.3:g.85990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2288T>C MANE Select	ENSP00000260947.4:p.Phe763Ser
ENST00000421162.2:c.935T>C	ENSP00000392245.2:p.Phe312Ser
ENST00000613192.2:c.*351T>C	ENSP00000483275.2:n.*351T>C
ENST00000613374.5:c.878T>C	ENSP00000484464.1:p.Phe293Ser
ENST00000613706.5:c.1880T>C	ENSP00000484976.2:p.Phe627Ser
ENST00000617164.5:c.2231T>C	ENSP00000480470.1:p.Phe744Ser
ENST00000619009.5:c.749T>C	ENSP00000482293.1:p.Phe250Ser
ENST00000650978.1:c.3663T>C
ENST00000260947.8:c.2288T>C	ENSP00000260947.4:p.Phe763Ser
ENST00000432456.5:c.431T>C
ENST00000455743.5:c.*1908T>C	ENSP00000412186.1:n.*1908T>C
ENST00000471590.5:n.623T>C
ENST00000613192.1:c.458T>C	ENSP00000483275.1:p.Phe153Ser
ENST00000613374.4:c.878T>C	ENSP00000484464.1:p.Phe293Ser
ENST00000613706.4:c.935T>C	ENSP00000484976.1:p.Phe312Ser
ENST00000617164.4:c.2231T>C	ENSP00000480470.1:p.Phe744Ser
ENST00000619009.4:c.749T>C	ENSP00000482293.1:p.Phe250Ser
ENST00000620057.4:c.*954T>C	ENSP00000481988.1:n.*954T>C
NM_000465.3:c.2288T>C	NP_000456.2:p.Phe763Ser
NM_001282543.1:c.2231T>C	NP_001269472.1:p.Phe744Ser
NM_001282545.1:c.935T>C	NP_001269474.1:p.Phe312Ser
NM_001282548.1:c.878T>C	NP_001269477.1:p.Phe293Ser
NM_001282549.1:c.749T>C	NP_001269478.1:p.Phe250Ser
NR_104212.1:n.2281T>C
NR_104215.1:n.2224T>C
NR_104216.1:n.1480T>C
XM_011511567.1:c.2234T>C	XP_011509869.1:p.Phe745Ser
XM_017004613.1:c.2387T>C	XP_016860102.1:p.Phe796Ser
XR_002959322.1:n.2654T>C
NM_000465.4:c.2288T>C MANE Select	NP_000456.2:p.Phe763Ser
NM_001282543.2:c.2231T>C	NP_001269472.1:p.Phe744Ser
NM_001282545.2:c.935T>C	NP_001269474.1:p.Phe312Ser
NM_001282548.2:c.878T>C	NP_001269477.1:p.Phe293Ser
NM_001282549.2:c.749T>C	NP_001269478.1:p.Phe250Ser
NR_104212.2:n.2253T>C
NR_104215.2:n.2196T>C
NR_104216.2:n.1452T>C