Canonical Allele Identifier: CA350450342

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593552A>G (hg19) ; chr2:g.214728828A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728828A>G , CM000664.2:g.214728828A>G	GRCh38
NC_000002.11:g.215593552A>G , CM000664.1:g.215593552A>G	GRCh37
NC_000002.10:g.215301797A>G	NCBI36
NG_012047.2:g.85877T>C
NG_012047.3:g.85884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2182T>C MANE Select	ENSP00000260947.4:p.Ser728Pro
ENST00000421162.2:c.829T>C	ENSP00000392245.2:p.Ser277Pro
ENST00000613192.2:c.*245T>C	ENSP00000483275.2:n.*245T>C
ENST00000613374.5:c.772T>C	ENSP00000484464.1:p.Ser258Pro
ENST00000613706.5:c.1774T>C	ENSP00000484976.2:p.Ser592Pro
ENST00000617164.5:c.2125T>C	ENSP00000480470.1:p.Ser709Pro
ENST00000619009.5:c.643T>C	ENSP00000482293.1:p.Ser215Pro
ENST00000650978.1:c.3557T>C
ENST00000260947.8:c.2182T>C	ENSP00000260947.4:p.Ser728Pro
ENST00000432456.5:c.325T>C
ENST00000455743.5:c.*1802T>C	ENSP00000412186.1:n.*1802T>C
ENST00000471590.5:n.517T>C
ENST00000613192.1:c.352T>C	ENSP00000483275.1:p.Ser118Pro
ENST00000613374.4:c.772T>C	ENSP00000484464.1:p.Ser258Pro
ENST00000613706.4:c.829T>C	ENSP00000484976.1:p.Ser277Pro
ENST00000617164.4:c.2125T>C	ENSP00000480470.1:p.Ser709Pro
ENST00000619009.4:c.643T>C	ENSP00000482293.1:p.Ser215Pro
ENST00000620057.4:c.*848T>C	ENSP00000481988.1:n.*848T>C
NM_000465.3:c.2182T>C	NP_000456.2:p.Ser728Pro
NM_001282543.1:c.2125T>C	NP_001269472.1:p.Ser709Pro
NM_001282545.1:c.829T>C	NP_001269474.1:p.Ser277Pro
NM_001282548.1:c.772T>C	NP_001269477.1:p.Ser258Pro
NM_001282549.1:c.643T>C	NP_001269478.1:p.Ser215Pro
NR_104212.1:n.2175T>C
NR_104215.1:n.2118T>C
NR_104216.1:n.1374T>C
XM_011511567.1:c.2128T>C	XP_011509869.1:p.Ser710Pro
XM_017004613.1:c.2281T>C	XP_016860102.1:p.Ser761Pro
XR_002959322.1:n.2548T>C
NM_000465.4:c.2182T>C MANE Select	NP_000456.2:p.Ser728Pro
NM_001282543.2:c.2125T>C	NP_001269472.1:p.Ser709Pro
NM_001282545.2:c.829T>C	NP_001269474.1:p.Ser277Pro
NM_001282548.2:c.772T>C	NP_001269477.1:p.Ser258Pro
NM_001282549.2:c.643T>C	NP_001269478.1:p.Ser215Pro
NR_104212.2:n.2147T>C
NR_104215.2:n.2090T>C
NR_104216.2:n.1346T>C