Canonical Allele Identifier: CA431139257

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595174A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730450A>G , CM000664.2:g.214730450A>G	GRCh38
NC_000002.11:g.215595174A>G , CM000664.1:g.215595174A>G	GRCh37
NC_000002.10:g.215303419A>G	NCBI36
NG_012047.2:g.84255T>C
NG_012047.3:g.84262T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1962T>C MANE Select	ENSP00000260947.4:p.Pro654=
ENST00000421162.2:c.609T>C	ENSP00000392245.2:p.Pro203=
ENST00000613192.2:c.*25T>C	ENSP00000483275.2:n.*25T>C
ENST00000613374.5:c.552T>C	ENSP00000484464.1:p.Pro184=
ENST00000613706.5:c.1554T>C	ENSP00000484976.2:p.Pro518=
ENST00000617164.5:c.1905T>C	ENSP00000480470.1:p.Pro635=
ENST00000619009.5:c.423T>C	ENSP00000482293.1:p.Pro141=
ENST00000650978.1:c.3337T>C
ENST00000260947.8:c.1962T>C	ENSP00000260947.4:p.Pro654=
ENST00000421162.1:c.609T>C	ENSP00000392245.1:p.Pro203=
ENST00000432456.5:c.59T>C
ENST00000455743.5:c.*1582T>C	ENSP00000412186.1:n.*1582T>C
ENST00000471590.5:n.297T>C
ENST00000613192.1:c.132T>C	ENSP00000483275.1:p.Pro44=
ENST00000613374.4:c.552T>C	ENSP00000484464.1:p.Pro184=
ENST00000613706.4:c.609T>C	ENSP00000484976.1:p.Pro203=
ENST00000617164.4:c.1905T>C	ENSP00000480470.1:p.Pro635=
ENST00000619009.4:c.423T>C	ENSP00000482293.1:p.Pro141=
ENST00000620057.4:c.*628T>C	ENSP00000481988.1:n.*628T>C
NM_000465.3:c.1962T>C	NP_000456.2:p.Pro654=
NM_001282543.1:c.1905T>C	NP_001269472.1:p.Pro635=
NM_001282545.1:c.609T>C	NP_001269474.1:p.Pro203=
NM_001282548.1:c.552T>C	NP_001269477.1:p.Pro184=
NM_001282549.1:c.423T>C	NP_001269478.1:p.Pro141=
NR_104212.1:n.1955T>C
NR_104215.1:n.1898T>C
NR_104216.1:n.1154T>C
XM_011511567.1:c.1908T>C	XP_011509869.1:p.Pro636=
XM_017004613.1:c.2061T>C	XP_016860102.1:p.Pro687=
XR_002959322.1:n.2152T>C
NM_000465.4:c.1962T>C MANE Select	NP_000456.2:p.Pro654=
NM_001282543.2:c.1905T>C	NP_001269472.1:p.Pro635=
NM_001282545.2:c.609T>C	NP_001269474.1:p.Pro203=
NM_001282548.2:c.552T>C	NP_001269477.1:p.Pro184=
NM_001282549.2:c.423T>C	NP_001269478.1:p.Pro141=
NR_104212.2:n.1927T>C
NR_104215.2:n.1870T>C
NR_104216.2:n.1126T>C