Canonical Allele Identifier: CA10577772

Gene: BARD1

Linked Data

• ClinVar Variation Id: 230790
• ClinVar RCV Id: RCV000219287 ; RCV000635956 ; RCV003148684
• dbSNP Id: rs876658774
• MyVariant Identifiers: chr2:g.215595157C>A (hg19) ; chr2:g.214730433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730433C>A , CM000664.2:g.214730433C>A	GRCh38
NC_000002.11:g.215595157C>A , CM000664.1:g.215595157C>A	GRCh37
NC_000002.10:g.215303402C>A	NCBI36
NG_012047.2:g.84272G>T
NG_012047.3:g.84279G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1979G>T MANE Select	ENSP00000260947.4:p.Ser660Ile
ENST00000421162.2:c.626G>T	ENSP00000392245.2:p.Ser209Ile
ENST00000613192.2:c.*42G>T	ENSP00000483275.2:n.*42G>T
ENST00000613374.5:c.569G>T	ENSP00000484464.1:p.Ser190Ile
ENST00000613706.5:c.1571G>T	ENSP00000484976.2:p.Ser524Ile
ENST00000617164.5:c.1922G>T	ENSP00000480470.1:p.Ser641Ile
ENST00000619009.5:c.440G>T	ENSP00000482293.1:p.Ser147Ile
ENST00000650978.1:c.3354G>T
ENST00000260947.8:c.1979G>T	ENSP00000260947.4:p.Ser660Ile
ENST00000421162.1:c.626G>T	ENSP00000392245.1:p.Ser209Ile
ENST00000432456.5:c.76G>T
ENST00000455743.5:c.*1599G>T	ENSP00000412186.1:n.*1599G>T
ENST00000471590.5:n.314G>T
ENST00000613192.1:c.149G>T	ENSP00000483275.1:p.Ser50Ile
ENST00000613374.4:c.569G>T	ENSP00000484464.1:p.Ser190Ile
ENST00000613706.4:c.626G>T	ENSP00000484976.1:p.Ser209Ile
ENST00000617164.4:c.1922G>T	ENSP00000480470.1:p.Ser641Ile
ENST00000619009.4:c.440G>T	ENSP00000482293.1:p.Ser147Ile
ENST00000620057.4:c.*645G>T	ENSP00000481988.1:n.*645G>T
NM_000465.3:c.1979G>T	NP_000456.2:p.Ser660Ile
NM_001282543.1:c.1922G>T	NP_001269472.1:p.Ser641Ile
NM_001282545.1:c.626G>T	NP_001269474.1:p.Ser209Ile
NM_001282548.1:c.569G>T	NP_001269477.1:p.Ser190Ile
NM_001282549.1:c.440G>T	NP_001269478.1:p.Ser147Ile
NR_104212.1:n.1972G>T
NR_104215.1:n.1915G>T
NR_104216.1:n.1171G>T
XM_011511567.1:c.1925G>T	XP_011509869.1:p.Ser642Ile
XM_017004613.1:c.2078G>T	XP_016860102.1:p.Ser693Ile
XR_002959322.1:n.2169G>T
NM_000465.4:c.1979G>T MANE Select	NP_000456.2:p.Ser660Ile
NM_001282543.2:c.1922G>T	NP_001269472.1:p.Ser641Ile
NM_001282545.2:c.626G>T	NP_001269474.1:p.Ser209Ile
NM_001282548.2:c.569G>T	NP_001269477.1:p.Ser190Ile
NM_001282549.2:c.440G>T	NP_001269478.1:p.Ser147Ile
NR_104212.2:n.1944G>T
NR_104215.2:n.1887G>T
NR_104216.2:n.1143G>T