Canonical Allele Identifier: CA350451262

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595208T>G (hg19) ; chr2:g.214730484T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730484T>G , CM000664.2:g.214730484T>G	GRCh38
NC_000002.11:g.215595208T>G , CM000664.1:g.215595208T>G	GRCh37
NC_000002.10:g.215303453T>G	NCBI36
NG_012047.2:g.84221A>C
NG_012047.3:g.84228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1928A>C MANE Select	ENSP00000260947.4:p.Lys643Thr
ENST00000421162.2:c.575A>C	ENSP00000392245.2:p.Lys192Thr
ENST00000613192.2:c.183A>C	ENSP00000483275.2:p.Lys61Asn
ENST00000613374.5:c.518A>C	ENSP00000484464.1:p.Lys173Thr
ENST00000613706.5:c.1520A>C	ENSP00000484976.2:p.Lys507Thr
ENST00000617164.5:c.1871A>C	ENSP00000480470.1:p.Lys624Thr
ENST00000619009.5:c.389A>C	ENSP00000482293.1:p.Lys130Thr
ENST00000650978.1:c.3303A>C
ENST00000260947.8:c.1928A>C	ENSP00000260947.4:p.Lys643Thr
ENST00000421162.1:c.575A>C	ENSP00000392245.1:p.Lys192Thr
ENST00000432456.5:c.25A>C
ENST00000455743.5:c.*1548A>C	ENSP00000412186.1:n.*1548A>C
ENST00000471590.5:n.263A>C
ENST00000613192.1:c.98A>C	ENSP00000483275.1:p.Lys33Thr
ENST00000613374.4:c.518A>C	ENSP00000484464.1:p.Lys173Thr
ENST00000613706.4:c.575A>C	ENSP00000484976.1:p.Lys192Thr
ENST00000617164.4:c.1871A>C	ENSP00000480470.1:p.Lys624Thr
ENST00000619009.4:c.389A>C	ENSP00000482293.1:p.Lys130Thr
ENST00000620057.4:c.*594A>C	ENSP00000481988.1:n.*594A>C
NM_000465.3:c.1928A>C	NP_000456.2:p.Lys643Thr
NM_001282543.1:c.1871A>C	NP_001269472.1:p.Lys624Thr
NM_001282545.1:c.575A>C	NP_001269474.1:p.Lys192Thr
NM_001282548.1:c.518A>C	NP_001269477.1:p.Lys173Thr
NM_001282549.1:c.389A>C	NP_001269478.1:p.Lys130Thr
NR_104212.1:n.1921A>C
NR_104215.1:n.1864A>C
NR_104216.1:n.1120A>C
XM_011511567.1:c.1874A>C	XP_011509869.1:p.Lys625Thr
XM_017004613.1:c.2027A>C	XP_016860102.1:p.Lys676Thr
XR_002959322.1:n.2118A>C
NM_000465.4:c.1928A>C MANE Select	NP_000456.2:p.Lys643Thr
NM_001282543.2:c.1871A>C	NP_001269472.1:p.Lys624Thr
NM_001282545.2:c.575A>C	NP_001269474.1:p.Lys192Thr
NM_001282548.2:c.518A>C	NP_001269477.1:p.Lys173Thr
NM_001282549.2:c.389A>C	NP_001269478.1:p.Lys130Thr
NR_104212.2:n.1893A>C
NR_104215.2:n.1836A>C
NR_104216.2:n.1092A>C