Canonical Allele Identifier: CA350452173

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609834A>T (hg19) ; chr2:g.214745110A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1860T>A MANE Select	ENSP00000260947.4:p.Cys620Ter
ENST00000421162.2:c.507T>A	ENSP00000392245.2:p.Cys169Ter
ENST00000613192.2:c.159-14602T>A	ENSP00000483275.2:n.159-14602T>A
ENST00000613374.5:c.450T>A	ENSP00000484464.1:p.Cys150Ter
ENST00000613706.5:c.1452T>A	ENSP00000484976.2:p.Cys484Ter
ENST00000617164.5:c.1803T>A	ENSP00000480470.1:p.Cys601Ter
ENST00000619009.5:c.365-14602T>A	ENSP00000482293.1:n.365-14602T>A
ENST00000650978.1:c.3235T>A
ENST00000260947.8:c.1860T>A	ENSP00000260947.4:p.Cys620Ter
ENST00000421162.1:c.507T>A	ENSP00000392245.1:p.Cys169Ter
ENST00000455743.5:c.*1480T>A	ENSP00000412186.1:n.*1480T>A
ENST00000613192.1:c.74-14602T>A	ENSP00000483275.1:n.74-14602T>A
ENST00000613374.4:c.450T>A	ENSP00000484464.1:p.Cys150Ter
ENST00000613706.4:c.507T>A	ENSP00000484976.1:p.Cys169Ter
ENST00000617164.4:c.1803T>A	ENSP00000480470.1:p.Cys601Ter
ENST00000619009.4:c.365-14602T>A	ENSP00000482293.1:n.365-14602T>A
ENST00000620057.4:c.*526T>A	ENSP00000481988.1:n.*526T>A
NM_000465.3:c.1860T>A	NP_000456.2:p.Cys620Ter
NM_001282543.1:c.1803T>A	NP_001269472.1:p.Cys601Ter
NM_001282545.1:c.507T>A	NP_001269474.1:p.Cys169Ter
NM_001282548.1:c.450T>A	NP_001269477.1:p.Cys150Ter
NM_001282549.1:c.365-14602T>A	NP_001269478.1:n.365-14602T>A
NR_104212.1:n.1853T>A
NR_104215.1:n.1796T>A
NR_104216.1:n.1052T>A
XM_011511567.1:c.1806T>A	XP_011509869.1:p.Cys602Ter
XM_011511568.1:c.1860T>A	XP_011509870.1:p.Cys620Ter
XM_017004613.1:c.1959T>A	XP_016860102.1:p.Cys653Ter
XM_017004614.1:c.1959T>A	XP_016860103.1:p.Cys653Ter
XR_002959322.1:n.2050T>A
NM_000465.4:c.1860T>A MANE Select	NP_000456.2:p.Cys620Ter
NM_001282543.2:c.1803T>A	NP_001269472.1:p.Cys601Ter
NM_001282545.2:c.507T>A	NP_001269474.1:p.Cys169Ter
NM_001282548.2:c.450T>A	NP_001269477.1:p.Cys150Ter
NM_001282549.2:c.365-14602T>A	NP_001269478.1:n.365-14602T>A
NR_104212.2:n.1825T>A
NR_104215.2:n.1768T>A
NR_104216.2:n.1024T>A