Canonical Allele Identifier: CA350450005

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593489T>A (hg19) ; chr2:g.214728765T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728765T>A , CM000664.2:g.214728765T>A	GRCh38
NC_000002.11:g.215593489T>A , CM000664.1:g.215593489T>A	GRCh37
NC_000002.10:g.215301734T>A	NCBI36
NG_012047.2:g.85940A>T
NG_012047.3:g.85947A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2245A>T MANE Select	ENSP00000260947.4:p.Arg749Trp
ENST00000421162.2:c.892A>T	ENSP00000392245.2:p.Arg298Trp
ENST00000613192.2:c.*308A>T	ENSP00000483275.2:n.*308A>T
ENST00000613374.5:c.835A>T	ENSP00000484464.1:p.Arg279Trp
ENST00000613706.5:c.1837A>T	ENSP00000484976.2:p.Arg613Trp
ENST00000617164.5:c.2188A>T	ENSP00000480470.1:p.Arg730Trp
ENST00000619009.5:c.706A>T	ENSP00000482293.1:p.Arg236Trp
ENST00000650978.1:c.3620A>T
ENST00000260947.8:c.2245A>T	ENSP00000260947.4:p.Arg749Trp
ENST00000432456.5:c.388A>T
ENST00000455743.5:c.*1865A>T	ENSP00000412186.1:n.*1865A>T
ENST00000471590.5:n.580A>T
ENST00000613192.1:c.415A>T	ENSP00000483275.1:p.Arg139Trp
ENST00000613374.4:c.835A>T	ENSP00000484464.1:p.Arg279Trp
ENST00000613706.4:c.892A>T	ENSP00000484976.1:p.Arg298Trp
ENST00000617164.4:c.2188A>T	ENSP00000480470.1:p.Arg730Trp
ENST00000619009.4:c.706A>T	ENSP00000482293.1:p.Arg236Trp
ENST00000620057.4:c.*911A>T	ENSP00000481988.1:n.*911A>T
NM_000465.3:c.2245A>T	NP_000456.2:p.Arg749Trp
NM_001282543.1:c.2188A>T	NP_001269472.1:p.Arg730Trp
NM_001282545.1:c.892A>T	NP_001269474.1:p.Arg298Trp
NM_001282548.1:c.835A>T	NP_001269477.1:p.Arg279Trp
NM_001282549.1:c.706A>T	NP_001269478.1:p.Arg236Trp
NR_104212.1:n.2238A>T
NR_104215.1:n.2181A>T
NR_104216.1:n.1437A>T
XM_011511567.1:c.2191A>T	XP_011509869.1:p.Arg731Trp
XM_017004613.1:c.2344A>T	XP_016860102.1:p.Arg782Trp
XR_002959322.1:n.2611A>T
NM_000465.4:c.2245A>T MANE Select	NP_000456.2:p.Arg749Trp
NM_001282543.2:c.2188A>T	NP_001269472.1:p.Arg730Trp
NM_001282545.2:c.892A>T	NP_001269474.1:p.Arg298Trp
NM_001282548.2:c.835A>T	NP_001269477.1:p.Arg279Trp
NM_001282549.2:c.706A>T	NP_001269478.1:p.Arg236Trp
NR_104212.2:n.2210A>T
NR_104215.2:n.2153A>T
NR_104216.2:n.1409A>T