Canonical Allele Identifier: CA350449972

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2861853
• ClinVar RCV Id: RCV003608389
• MyVariant Identifiers: chr2:g.215593473T>G (hg19) ; chr2:g.214728749T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728749T>G , CM000664.2:g.214728749T>G	GRCh38
NC_000002.11:g.215593473T>G , CM000664.1:g.215593473T>G	GRCh37
NC_000002.10:g.215301718T>G	NCBI36
NG_012047.2:g.85956A>C
NG_012047.3:g.85963A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2261A>C MANE Select	ENSP00000260947.4:p.Lys754Thr
ENST00000421162.2:c.908A>C	ENSP00000392245.2:p.Lys303Thr
ENST00000613192.2:c.*324A>C	ENSP00000483275.2:n.*324A>C
ENST00000613374.5:c.851A>C	ENSP00000484464.1:p.Lys284Thr
ENST00000613706.5:c.1853A>C	ENSP00000484976.2:p.Lys618Thr
ENST00000617164.5:c.2204A>C	ENSP00000480470.1:p.Lys735Thr
ENST00000619009.5:c.722A>C	ENSP00000482293.1:p.Lys241Thr
ENST00000650978.1:c.3636A>C
ENST00000260947.8:c.2261A>C	ENSP00000260947.4:p.Lys754Thr
ENST00000432456.5:c.404A>C
ENST00000455743.5:c.*1881A>C	ENSP00000412186.1:n.*1881A>C
ENST00000471590.5:n.596A>C
ENST00000613192.1:c.431A>C	ENSP00000483275.1:p.Lys144Thr
ENST00000613374.4:c.851A>C	ENSP00000484464.1:p.Lys284Thr
ENST00000613706.4:c.908A>C	ENSP00000484976.1:p.Lys303Thr
ENST00000617164.4:c.2204A>C	ENSP00000480470.1:p.Lys735Thr
ENST00000619009.4:c.722A>C	ENSP00000482293.1:p.Lys241Thr
ENST00000620057.4:c.*927A>C	ENSP00000481988.1:n.*927A>C
NM_000465.3:c.2261A>C	NP_000456.2:p.Lys754Thr
NM_001282543.1:c.2204A>C	NP_001269472.1:p.Lys735Thr
NM_001282545.1:c.908A>C	NP_001269474.1:p.Lys303Thr
NM_001282548.1:c.851A>C	NP_001269477.1:p.Lys284Thr
NM_001282549.1:c.722A>C	NP_001269478.1:p.Lys241Thr
NR_104212.1:n.2254A>C
NR_104215.1:n.2197A>C
NR_104216.1:n.1453A>C
XM_011511567.1:c.2207A>C	XP_011509869.1:p.Lys736Thr
XM_017004613.1:c.2360A>C	XP_016860102.1:p.Lys787Thr
XR_002959322.1:n.2627A>C
NM_000465.4:c.2261A>C MANE Select	NP_000456.2:p.Lys754Thr
NM_001282543.2:c.2204A>C	NP_001269472.1:p.Lys735Thr
NM_001282545.2:c.908A>C	NP_001269474.1:p.Lys303Thr
NM_001282548.2:c.851A>C	NP_001269477.1:p.Lys284Thr
NM_001282549.2:c.722A>C	NP_001269478.1:p.Lys241Thr
NR_104212.2:n.2226A>C
NR_104215.2:n.2169A>C
NR_104216.2:n.1425A>C