Canonical Allele Identifier: CA64792630

Gene: BARD1

Linked Data

• dbSNP Id: rs867281641
• COSMIC: COSM4090988 ; COSM4090989
• MyVariant Identifiers: chr2:g.215593476C>T (hg19) ; chr2:g.214728752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728752C>T , CM000664.2:g.214728752C>T	GRCh38
NC_000002.11:g.215593476C>T , CM000664.1:g.215593476C>T	GRCh37
NC_000002.10:g.215301721C>T	NCBI36
NG_012047.2:g.85953G>A
NG_012047.3:g.85960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2258G>A MANE Select	ENSP00000260947.4:p.Gly753Asp
ENST00000421162.2:c.905G>A	ENSP00000392245.2:p.Gly302Asp
ENST00000613192.2:c.*321G>A	ENSP00000483275.2:n.*321G>A
ENST00000613374.5:c.848G>A	ENSP00000484464.1:p.Gly283Asp
ENST00000613706.5:c.1850G>A	ENSP00000484976.2:p.Gly617Asp
ENST00000617164.5:c.2201G>A	ENSP00000480470.1:p.Gly734Asp
ENST00000619009.5:c.719G>A	ENSP00000482293.1:p.Gly240Asp
ENST00000650978.1:c.3633G>A
ENST00000260947.8:c.2258G>A	ENSP00000260947.4:p.Gly753Asp
ENST00000432456.5:c.401G>A
ENST00000455743.5:c.*1878G>A	ENSP00000412186.1:n.*1878G>A
ENST00000471590.5:n.593G>A
ENST00000613192.1:c.428G>A	ENSP00000483275.1:p.Gly143Asp
ENST00000613374.4:c.848G>A	ENSP00000484464.1:p.Gly283Asp
ENST00000613706.4:c.905G>A	ENSP00000484976.1:p.Gly302Asp
ENST00000617164.4:c.2201G>A	ENSP00000480470.1:p.Gly734Asp
ENST00000619009.4:c.719G>A	ENSP00000482293.1:p.Gly240Asp
ENST00000620057.4:c.*924G>A	ENSP00000481988.1:n.*924G>A
NM_000465.3:c.2258G>A	NP_000456.2:p.Gly753Asp
NM_001282543.1:c.2201G>A	NP_001269472.1:p.Gly734Asp
NM_001282545.1:c.905G>A	NP_001269474.1:p.Gly302Asp
NM_001282548.1:c.848G>A	NP_001269477.1:p.Gly283Asp
NM_001282549.1:c.719G>A	NP_001269478.1:p.Gly240Asp
NR_104212.1:n.2251G>A
NR_104215.1:n.2194G>A
NR_104216.1:n.1450G>A
XM_011511567.1:c.2204G>A	XP_011509869.1:p.Gly735Asp
XM_017004613.1:c.2357G>A	XP_016860102.1:p.Gly786Asp
XR_002959322.1:n.2624G>A
NM_000465.4:c.2258G>A MANE Select	NP_000456.2:p.Gly753Asp
NM_001282543.2:c.2201G>A	NP_001269472.1:p.Gly734Asp
NM_001282545.2:c.905G>A	NP_001269474.1:p.Gly302Asp
NM_001282548.2:c.848G>A	NP_001269477.1:p.Gly283Asp
NM_001282549.2:c.719G>A	NP_001269478.1:p.Gly240Asp
NR_104212.2:n.2223G>A
NR_104215.2:n.2166G>A
NR_104216.2:n.1422G>A