Canonical Allele Identifier: CA350451334

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595229A>C (hg19) ; chr2:g.214730505A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730505A>C , CM000664.2:g.214730505A>C	GRCh38
NC_000002.11:g.215595229A>C , CM000664.1:g.215595229A>C	GRCh37
NC_000002.10:g.215303474A>C	NCBI36
NG_012047.2:g.84200T>G
NG_012047.3:g.84207T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1907T>G MANE Select	ENSP00000260947.4:p.Val636Gly
ENST00000421162.2:c.554T>G	ENSP00000392245.2:p.Val185Gly
ENST00000613192.2:c.162T>G	ENSP00000483275.2:p.Gly54=
ENST00000613374.5:c.497T>G	ENSP00000484464.1:p.Val166Gly
ENST00000613706.5:c.1499T>G	ENSP00000484976.2:p.Val500Gly
ENST00000617164.5:c.1850T>G	ENSP00000480470.1:p.Val617Gly
ENST00000619009.5:c.368T>G	ENSP00000482293.1:p.Val123Gly
ENST00000650978.1:c.3282T>G
ENST00000260947.8:c.1907T>G	ENSP00000260947.4:p.Val636Gly
ENST00000421162.1:c.554T>G	ENSP00000392245.1:p.Val185Gly
ENST00000432456.5:c.4T>G
ENST00000455743.5:c.*1527T>G	ENSP00000412186.1:n.*1527T>G
ENST00000471590.5:n.242T>G
ENST00000613192.1:c.77T>G	ENSP00000483275.1:p.Val26Gly
ENST00000613374.4:c.497T>G	ENSP00000484464.1:p.Val166Gly
ENST00000613706.4:c.554T>G	ENSP00000484976.1:p.Val185Gly
ENST00000617164.4:c.1850T>G	ENSP00000480470.1:p.Val617Gly
ENST00000619009.4:c.368T>G	ENSP00000482293.1:p.Val123Gly
ENST00000620057.4:c.*573T>G	ENSP00000481988.1:n.*573T>G
NM_000465.3:c.1907T>G	NP_000456.2:p.Val636Gly
NM_001282543.1:c.1850T>G	NP_001269472.1:p.Val617Gly
NM_001282545.1:c.554T>G	NP_001269474.1:p.Val185Gly
NM_001282548.1:c.497T>G	NP_001269477.1:p.Val166Gly
NM_001282549.1:c.368T>G	NP_001269478.1:p.Val123Gly
NR_104212.1:n.1900T>G
NR_104215.1:n.1843T>G
NR_104216.1:n.1099T>G
XM_011511567.1:c.1853T>G	XP_011509869.1:p.Val618Gly
XM_017004613.1:c.2006T>G	XP_016860102.1:p.Val669Gly
XR_002959322.1:n.2097T>G
NM_000465.4:c.1907T>G MANE Select	NP_000456.2:p.Val636Gly
NM_001282543.2:c.1850T>G	NP_001269472.1:p.Val617Gly
NM_001282545.2:c.554T>G	NP_001269474.1:p.Val185Gly
NM_001282548.2:c.497T>G	NP_001269477.1:p.Val166Gly
NM_001282549.2:c.368T>G	NP_001269478.1:p.Val123Gly
NR_104212.2:n.1872T>G
NR_104215.2:n.1815T>G
NR_104216.2:n.1071T>G