Canonical Allele Identifier: CA350451210

Gene: BARD1

Linked Data

• ClinVar Variation Id: 487427
• ClinVar RCV Id: RCV000576422
• dbSNP Id: rs1350570988
• MyVariant Identifiers: chr2:g.215595197G>A (hg19) ; chr2:g.214730473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730473G>A , CM000664.2:g.214730473G>A	GRCh38
NC_000002.11:g.215595197G>A , CM000664.1:g.215595197G>A	GRCh37
NC_000002.10:g.215303442G>A	NCBI36
NG_012047.2:g.84232C>T
NG_012047.3:g.84239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1939C>T MANE Select	ENSP00000260947.4:p.Gln647Ter
ENST00000421162.2:c.586C>T	ENSP00000392245.2:p.Gln196Ter
ENST00000613192.2:c.*2C>T	ENSP00000483275.2:n.*2C>T
ENST00000613374.5:c.529C>T	ENSP00000484464.1:p.Gln177Ter
ENST00000613706.5:c.1531C>T	ENSP00000484976.2:p.Gln511Ter
ENST00000617164.5:c.1882C>T	ENSP00000480470.1:p.Gln628Ter
ENST00000619009.5:c.400C>T	ENSP00000482293.1:p.Gln134Ter
ENST00000650978.1:c.3314C>T
ENST00000260947.8:c.1939C>T	ENSP00000260947.4:p.Gln647Ter
ENST00000421162.1:c.586C>T	ENSP00000392245.1:p.Gln196Ter
ENST00000432456.5:c.36C>T
ENST00000455743.5:c.*1559C>T	ENSP00000412186.1:n.*1559C>T
ENST00000471590.5:n.274C>T
ENST00000613192.1:c.109C>T	ENSP00000483275.1:p.Gln37Ter
ENST00000613374.4:c.529C>T	ENSP00000484464.1:p.Gln177Ter
ENST00000613706.4:c.586C>T	ENSP00000484976.1:p.Gln196Ter
ENST00000617164.4:c.1882C>T	ENSP00000480470.1:p.Gln628Ter
ENST00000619009.4:c.400C>T	ENSP00000482293.1:p.Gln134Ter
ENST00000620057.4:c.*605C>T	ENSP00000481988.1:n.*605C>T
NM_000465.3:c.1939C>T	NP_000456.2:p.Gln647Ter
NM_001282543.1:c.1882C>T	NP_001269472.1:p.Gln628Ter
NM_001282545.1:c.586C>T	NP_001269474.1:p.Gln196Ter
NM_001282548.1:c.529C>T	NP_001269477.1:p.Gln177Ter
NM_001282549.1:c.400C>T	NP_001269478.1:p.Gln134Ter
NR_104212.1:n.1932C>T
NR_104215.1:n.1875C>T
NR_104216.1:n.1131C>T
XM_011511567.1:c.1885C>T	XP_011509869.1:p.Gln629Ter
XM_017004613.1:c.2038C>T	XP_016860102.1:p.Gln680Ter
XR_002959322.1:n.2129C>T
NM_000465.4:c.1939C>T MANE Select	NP_000456.2:p.Gln647Ter
NM_001282543.2:c.1882C>T	NP_001269472.1:p.Gln628Ter
NM_001282545.2:c.586C>T	NP_001269474.1:p.Gln196Ter
NM_001282548.2:c.529C>T	NP_001269477.1:p.Gln177Ter
NM_001282549.2:c.400C>T	NP_001269478.1:p.Gln134Ter
NR_104212.2:n.1904C>T
NR_104215.2:n.1847C>T
NR_104216.2:n.1103C>T