Canonical Allele Identifier: CA350449704

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593418C>G (hg19) ; chr2:g.214728694C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728694C>G , CM000664.2:g.214728694C>G	GRCh38
NC_000002.11:g.215593418C>G , CM000664.1:g.215593418C>G	GRCh37
NC_000002.10:g.215301663C>G	NCBI36
NG_012047.2:g.86011G>C
NG_012047.3:g.86018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2316G>C MANE Select	ENSP00000260947.4:p.Leu772Phe
ENST00000421162.2:c.963G>C	ENSP00000392245.2:p.Leu321Phe
ENST00000613192.2:c.*379G>C	ENSP00000483275.2:n.*379G>C
ENST00000613374.5:c.906G>C	ENSP00000484464.1:p.Leu302Phe
ENST00000613706.5:c.1908G>C	ENSP00000484976.2:p.Leu636Phe
ENST00000617164.5:c.2259G>C	ENSP00000480470.1:p.Leu753Phe
ENST00000619009.5:c.777G>C	ENSP00000482293.1:p.Leu259Phe
ENST00000650978.1:c.3691G>C
ENST00000260947.8:c.2316G>C	ENSP00000260947.4:p.Leu772Phe
ENST00000432456.5:c.459G>C
ENST00000471590.5:n.651G>C
ENST00000613192.1:c.486G>C	ENSP00000483275.1:p.Leu162Phe
ENST00000613374.4:c.906G>C	ENSP00000484464.1:p.Leu302Phe
ENST00000613706.4:c.963G>C	ENSP00000484976.1:p.Leu321Phe
ENST00000617164.4:c.2259G>C	ENSP00000480470.1:p.Leu753Phe
ENST00000619009.4:c.777G>C	ENSP00000482293.1:p.Leu259Phe
ENST00000620057.4:c.*982G>C	ENSP00000481988.1:n.*982G>C
NM_000465.3:c.2316G>C	NP_000456.2:p.Leu772Phe
NM_001282543.1:c.2259G>C	NP_001269472.1:p.Leu753Phe
NM_001282545.1:c.963G>C	NP_001269474.1:p.Leu321Phe
NM_001282548.1:c.906G>C	NP_001269477.1:p.Leu302Phe
NM_001282549.1:c.777G>C	NP_001269478.1:p.Leu259Phe
NR_104212.1:n.2309G>C
NR_104215.1:n.2252G>C
NR_104216.1:n.1508G>C
XM_011511567.1:c.2262G>C	XP_011509869.1:p.Leu754Phe
XM_017004613.1:c.2415G>C	XP_016860102.1:p.Leu805Phe
XR_002959322.1:n.2682G>C
NM_000465.4:c.2316G>C MANE Select	NP_000456.2:p.Leu772Phe
NM_001282543.2:c.2259G>C	NP_001269472.1:p.Leu753Phe
NM_001282545.2:c.963G>C	NP_001269474.1:p.Leu321Phe
NM_001282548.2:c.906G>C	NP_001269477.1:p.Leu302Phe
NM_001282549.2:c.777G>C	NP_001269478.1:p.Leu259Phe
NR_104212.2:n.2281G>C
NR_104215.2:n.2224G>C
NR_104216.2:n.1480G>C