Canonical Allele Identifier: CA350452171

Gene: BARD1

Linked Data

• ClinVar Variation Id: 951824
• ClinVar RCV Id: RCV001223818
• dbSNP Id: rs1693039577
• MyVariant Identifiers: chr2:g.215609834A>C (hg19) ; chr2:g.214745110A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745110A>C , CM000664.2:g.214745110A>C	GRCh38
NC_000002.11:g.215609834A>C , CM000664.1:g.215609834A>C	GRCh37
NC_000002.10:g.215318079A>C	NCBI36
NG_012047.2:g.69595T>G
NG_012047.3:g.69602T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1860T>G MANE Select	ENSP00000260947.4:p.Cys620Trp
ENST00000421162.2:c.507T>G	ENSP00000392245.2:p.Cys169Trp
ENST00000613192.2:c.159-14602T>G	ENSP00000483275.2:n.159-14602T>G
ENST00000613374.5:c.450T>G	ENSP00000484464.1:p.Cys150Trp
ENST00000613706.5:c.1452T>G	ENSP00000484976.2:p.Cys484Trp
ENST00000617164.5:c.1803T>G	ENSP00000480470.1:p.Cys601Trp
ENST00000619009.5:c.365-14602T>G	ENSP00000482293.1:n.365-14602T>G
ENST00000650978.1:c.3235T>G
ENST00000260947.8:c.1860T>G	ENSP00000260947.4:p.Cys620Trp
ENST00000421162.1:c.507T>G	ENSP00000392245.1:p.Cys169Trp
ENST00000455743.5:c.*1480T>G	ENSP00000412186.1:n.*1480T>G
ENST00000613192.1:c.74-14602T>G	ENSP00000483275.1:n.74-14602T>G
ENST00000613374.4:c.450T>G	ENSP00000484464.1:p.Cys150Trp
ENST00000613706.4:c.507T>G	ENSP00000484976.1:p.Cys169Trp
ENST00000617164.4:c.1803T>G	ENSP00000480470.1:p.Cys601Trp
ENST00000619009.4:c.365-14602T>G	ENSP00000482293.1:n.365-14602T>G
ENST00000620057.4:c.*526T>G	ENSP00000481988.1:n.*526T>G
NM_000465.3:c.1860T>G	NP_000456.2:p.Cys620Trp
NM_001282543.1:c.1803T>G	NP_001269472.1:p.Cys601Trp
NM_001282545.1:c.507T>G	NP_001269474.1:p.Cys169Trp
NM_001282548.1:c.450T>G	NP_001269477.1:p.Cys150Trp
NM_001282549.1:c.365-14602T>G	NP_001269478.1:n.365-14602T>G
NR_104212.1:n.1853T>G
NR_104215.1:n.1796T>G
NR_104216.1:n.1052T>G
XM_011511567.1:c.1806T>G	XP_011509869.1:p.Cys602Trp
XM_011511568.1:c.1860T>G	XP_011509870.1:p.Cys620Trp
XM_017004613.1:c.1959T>G	XP_016860102.1:p.Cys653Trp
XM_017004614.1:c.1959T>G	XP_016860103.1:p.Cys653Trp
XR_002959322.1:n.2050T>G
NM_000465.4:c.1860T>G MANE Select	NP_000456.2:p.Cys620Trp
NM_001282543.2:c.1803T>G	NP_001269472.1:p.Cys601Trp
NM_001282545.2:c.507T>G	NP_001269474.1:p.Cys169Trp
NM_001282548.2:c.450T>G	NP_001269477.1:p.Cys150Trp
NM_001282549.2:c.365-14602T>G	NP_001269478.1:n.365-14602T>G
NR_104212.2:n.1825T>G
NR_104215.2:n.1768T>G
NR_104216.2:n.1024T>G