Canonical Allele Identifier: CA287526

Gene: BARD1

Linked Data

• ClinVar Variation Id: 127726
• ClinVar RCV Id: RCV000115622 ; RCV001854555 ; RCV004019612
• dbSNP Id: rs587780025
• MyVariant Identifiers: chr2:g.215595175G>A (hg19) ; chr2:g.214730451G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730451G>A , CM000664.2:g.214730451G>A	GRCh38
NC_000002.11:g.215595175G>A , CM000664.1:g.215595175G>A	GRCh37
NC_000002.10:g.215303420G>A	NCBI36
NG_012047.2:g.84254C>T
NG_012047.3:g.84261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1961C>T MANE Select	ENSP00000260947.4:p.Pro654Leu
ENST00000421162.2:c.608C>T	ENSP00000392245.2:p.Pro203Leu
ENST00000613192.2:c.*24C>T	ENSP00000483275.2:n.*24C>T
ENST00000613374.5:c.551C>T	ENSP00000484464.1:p.Pro184Leu
ENST00000613706.5:c.1553C>T	ENSP00000484976.2:p.Pro518Leu
ENST00000617164.5:c.1904C>T	ENSP00000480470.1:p.Pro635Leu
ENST00000619009.5:c.422C>T	ENSP00000482293.1:p.Pro141Leu
ENST00000650978.1:c.3336C>T
ENST00000260947.8:c.1961C>T	ENSP00000260947.4:p.Pro654Leu
ENST00000421162.1:c.608C>T	ENSP00000392245.1:p.Pro203Leu
ENST00000432456.5:c.58C>T
ENST00000455743.5:c.*1581C>T	ENSP00000412186.1:n.*1581C>T
ENST00000471590.5:n.296C>T
ENST00000613192.1:c.131C>T	ENSP00000483275.1:p.Pro44Leu
ENST00000613374.4:c.551C>T	ENSP00000484464.1:p.Pro184Leu
ENST00000613706.4:c.608C>T	ENSP00000484976.1:p.Pro203Leu
ENST00000617164.4:c.1904C>T	ENSP00000480470.1:p.Pro635Leu
ENST00000619009.4:c.422C>T	ENSP00000482293.1:p.Pro141Leu
ENST00000620057.4:c.*627C>T	ENSP00000481988.1:n.*627C>T
NM_000465.3:c.1961C>T	NP_000456.2:p.Pro654Leu
NM_001282543.1:c.1904C>T	NP_001269472.1:p.Pro635Leu
NM_001282545.1:c.608C>T	NP_001269474.1:p.Pro203Leu
NM_001282548.1:c.551C>T	NP_001269477.1:p.Pro184Leu
NM_001282549.1:c.422C>T	NP_001269478.1:p.Pro141Leu
NR_104212.1:n.1954C>T
NR_104215.1:n.1897C>T
NR_104216.1:n.1153C>T
XM_011511567.1:c.1907C>T	XP_011509869.1:p.Pro636Leu
XM_017004613.1:c.2060C>T	XP_016860102.1:p.Pro687Leu
XR_002959322.1:n.2151C>T
NM_000465.4:c.1961C>T MANE Select	NP_000456.2:p.Pro654Leu
NM_001282543.2:c.1904C>T	NP_001269472.1:p.Pro635Leu
NM_001282545.2:c.608C>T	NP_001269474.1:p.Pro203Leu
NM_001282548.2:c.551C>T	NP_001269477.1:p.Pro184Leu
NM_001282549.2:c.422C>T	NP_001269478.1:p.Pro141Leu
NR_104212.2:n.1926C>T
NR_104215.2:n.1869C>T
NR_104216.2:n.1125C>T