Canonical Allele Identifier: CA350450507

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593594T>C (hg19) ; chr2:g.214728870T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728870T>C , CM000664.2:g.214728870T>C	GRCh38
NC_000002.11:g.215593594T>C , CM000664.1:g.215593594T>C	GRCh37
NC_000002.10:g.215301839T>C	NCBI36
NG_012047.2:g.85835A>G
NG_012047.3:g.85842A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2140A>G MANE Select	ENSP00000260947.4:p.Thr714Ala
ENST00000421162.2:c.787A>G	ENSP00000392245.2:p.Thr263Ala
ENST00000613192.2:c.*203A>G	ENSP00000483275.2:n.*203A>G
ENST00000613374.5:c.730A>G	ENSP00000484464.1:p.Thr244Ala
ENST00000613706.5:c.1732A>G	ENSP00000484976.2:p.Thr578Ala
ENST00000617164.5:c.2083A>G	ENSP00000480470.1:p.Thr695Ala
ENST00000619009.5:c.601A>G	ENSP00000482293.1:p.Thr201Ala
ENST00000650978.1:c.3515A>G
ENST00000260947.8:c.2140A>G	ENSP00000260947.4:p.Thr714Ala
ENST00000432456.5:c.283A>G
ENST00000455743.5:c.*1760A>G	ENSP00000412186.1:n.*1760A>G
ENST00000471590.5:n.475A>G
ENST00000613192.1:c.310A>G	ENSP00000483275.1:p.Thr104Ala
ENST00000613374.4:c.730A>G	ENSP00000484464.1:p.Thr244Ala
ENST00000613706.4:c.787A>G	ENSP00000484976.1:p.Thr263Ala
ENST00000617164.4:c.2083A>G	ENSP00000480470.1:p.Thr695Ala
ENST00000619009.4:c.601A>G	ENSP00000482293.1:p.Thr201Ala
ENST00000620057.4:c.*806A>G	ENSP00000481988.1:n.*806A>G
NM_000465.3:c.2140A>G	NP_000456.2:p.Thr714Ala
NM_001282543.1:c.2083A>G	NP_001269472.1:p.Thr695Ala
NM_001282545.1:c.787A>G	NP_001269474.1:p.Thr263Ala
NM_001282548.1:c.730A>G	NP_001269477.1:p.Thr244Ala
NM_001282549.1:c.601A>G	NP_001269478.1:p.Thr201Ala
NR_104212.1:n.2133A>G
NR_104215.1:n.2076A>G
NR_104216.1:n.1332A>G
XM_011511567.1:c.2086A>G	XP_011509869.1:p.Thr696Ala
XM_017004613.1:c.2239A>G	XP_016860102.1:p.Thr747Ala
XR_002959322.1:n.2506A>G
NM_000465.4:c.2140A>G MANE Select	NP_000456.2:p.Thr714Ala
NM_001282543.2:c.2083A>G	NP_001269472.1:p.Thr695Ala
NM_001282545.2:c.787A>G	NP_001269474.1:p.Thr263Ala
NM_001282548.2:c.730A>G	NP_001269477.1:p.Thr244Ala
NM_001282549.2:c.601A>G	NP_001269478.1:p.Thr201Ala
NR_104212.2:n.2105A>G
NR_104215.2:n.2048A>G
NR_104216.2:n.1304A>G