Canonical Allele Identifier: CA764585211

Gene: BARD1

Linked Data

• dbSNP Id: rs1459121140
• MyVariant Identifiers: chr2:g.215635741A>T (hg19) ; chr2:g.214771017A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214771017A>T , CM000664.2:g.214771017A>T	GRCh38
NC_000002.11:g.215635741A>T , CM000664.1:g.215635741A>T	GRCh37
NC_000002.10:g.215343986A>T	NCBI36
NG_012047.2:g.43688T>A
NG_012047.3:g.43695T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1315-1705T>A MANE Select	ENSP00000260947.4:n.1315-1705T>A
ENST00000421162.2:c.216-18462T>A	ENSP00000392245.2:n.216-18462T>A
ENST00000613192.2:c.158+38395T>A	ENSP00000483275.2:n.158+38395T>A
ENST00000613374.5:c.159-18462T>A	ENSP00000484464.1:n.159-18462T>A
ENST00000613706.5:c.907-1705T>A	ENSP00000484976.2:n.907-1705T>A
ENST00000617164.5:c.1258-1705T>A	ENSP00000480470.1:n.1258-1705T>A
ENST00000619009.5:c.364+21280T>A	ENSP00000482293.1:n.364+21280T>A
ENST00000650978.1:c.1157-172T>A
ENST00000260947.8:c.1315-1705T>A	ENSP00000260947.4:n.1315-1705T>A
ENST00000421162.1:c.216-18462T>A	ENSP00000392245.1:n.216-18462T>A
ENST00000455743.5:c.*935-1705T>A	ENSP00000412186.1:n.*935-1705T>A
ENST00000613192.1:c.73+38395T>A	ENSP00000483275.1:n.73+38395T>A
ENST00000613374.4:c.159-18462T>A	ENSP00000484464.1:n.159-18462T>A
ENST00000613706.4:c.216-18462T>A	ENSP00000484976.1:n.216-18462T>A
ENST00000617164.4:c.1258-1705T>A	ENSP00000480470.1:n.1258-1705T>A
ENST00000619009.4:c.364+21280T>A	ENSP00000482293.1:n.364+21280T>A
ENST00000620057.4:c.365-1705T>A	ENSP00000481988.1:n.365-1705T>A
NM_000465.3:c.1315-1705T>A	NP_000456.2:n.1315-1705T>A
NM_001282543.1:c.1258-1705T>A	NP_001269472.1:n.1258-1705T>A
NM_001282545.1:c.216-18462T>A	NP_001269474.1:n.216-18462T>A
NM_001282548.1:c.159-18462T>A	NP_001269477.1:n.159-18462T>A
NM_001282549.1:c.364+21280T>A	NP_001269478.1:n.364+21280T>A
NR_104212.1:n.1308-1705T>A
NR_104215.1:n.1251-1705T>A
NR_104216.1:n.507-1705T>A
XM_011511567.1:c.1261-1705T>A	XP_011509869.1:n.1261-1705T>A
XM_011511568.1:c.1315-1705T>A	XP_011509870.1:n.1315-1705T>A
XM_017004613.1:c.1414-1705T>A	XP_016860102.1:n.1414-1705T>A
XM_017004614.1:c.1414-1705T>A	XP_016860103.1:n.1414-1705T>A
XR_002959322.1:n.1505-1705T>A
NM_000465.4:c.1315-1705T>A MANE Select	NP_000456.2:n.1315-1705T>A
NM_001282543.2:c.1258-1705T>A	NP_001269472.1:n.1258-1705T>A
NM_001282545.2:c.216-18462T>A	NP_001269474.1:n.216-18462T>A
NM_001282548.2:c.159-18462T>A	NP_001269477.1:n.159-18462T>A
NM_001282549.2:c.364+21280T>A	NP_001269478.1:n.364+21280T>A
NR_104212.2:n.1280-1705T>A
NR_104215.2:n.1223-1705T>A
NR_104216.2:n.479-1705T>A