Canonical Allele Identifier: CA350449659

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593410A>G (hg19) ; chr2:g.214728686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728686A>G , CM000664.2:g.214728686A>G	GRCh38
NC_000002.11:g.215593410A>G , CM000664.1:g.215593410A>G	GRCh37
NC_000002.10:g.215301655A>G	NCBI36
NG_012047.2:g.86019T>C
NG_012047.3:g.86026T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2324T>C MANE Select	ENSP00000260947.4:p.Leu775Pro
ENST00000421162.2:c.971T>C	ENSP00000392245.2:p.Leu324Pro
ENST00000613192.2:c.*387T>C	ENSP00000483275.2:n.*387T>C
ENST00000613374.5:c.914T>C	ENSP00000484464.1:p.Leu305Pro
ENST00000613706.5:c.1916T>C	ENSP00000484976.2:p.Leu639Pro
ENST00000617164.5:c.2267T>C	ENSP00000480470.1:p.Leu756Pro
ENST00000619009.5:c.785T>C	ENSP00000482293.1:p.Leu262Pro
ENST00000650978.1:c.3699T>C
ENST00000260947.8:c.2324T>C	ENSP00000260947.4:p.Leu775Pro
ENST00000432456.5:c.467T>C
ENST00000471590.5:n.659T>C
ENST00000613192.1:c.494T>C	ENSP00000483275.1:p.Leu165Pro
ENST00000613374.4:c.914T>C	ENSP00000484464.1:p.Leu305Pro
ENST00000613706.4:c.971T>C	ENSP00000484976.1:p.Leu324Pro
ENST00000617164.4:c.2267T>C	ENSP00000480470.1:p.Leu756Pro
ENST00000619009.4:c.785T>C	ENSP00000482293.1:p.Leu262Pro
ENST00000620057.4:c.*990T>C	ENSP00000481988.1:n.*990T>C
NM_000465.3:c.2324T>C	NP_000456.2:p.Leu775Pro
NM_001282543.1:c.2267T>C	NP_001269472.1:p.Leu756Pro
NM_001282545.1:c.971T>C	NP_001269474.1:p.Leu324Pro
NM_001282548.1:c.914T>C	NP_001269477.1:p.Leu305Pro
NM_001282549.1:c.785T>C	NP_001269478.1:p.Leu262Pro
NR_104212.1:n.2317T>C
NR_104215.1:n.2260T>C
NR_104216.1:n.1516T>C
XM_011511567.1:c.2270T>C	XP_011509869.1:p.Leu757Pro
XM_017004613.1:c.2423T>C	XP_016860102.1:p.Leu808Pro
XR_002959322.1:n.2690T>C
NM_000465.4:c.2324T>C MANE Select	NP_000456.2:p.Leu775Pro
NM_001282543.2:c.2267T>C	NP_001269472.1:p.Leu756Pro
NM_001282545.2:c.971T>C	NP_001269474.1:p.Leu324Pro
NM_001282548.2:c.914T>C	NP_001269477.1:p.Leu305Pro
NM_001282549.2:c.785T>C	NP_001269478.1:p.Leu262Pro
NR_104212.2:n.2289T>C
NR_104215.2:n.2232T>C
NR_104216.2:n.1488T>C