Canonical Allele Identifier: CA350451315

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1035202
• ClinVar RCV Id: RCV001338037
• dbSNP Id: rs756136465
• MyVariant Identifiers: chr2:g.215595224C>A (hg19) ; chr2:g.214730500C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730500C>A , CM000664.2:g.214730500C>A	GRCh38
NC_000002.11:g.215595224C>A , CM000664.1:g.215595224C>A	GRCh37
NC_000002.10:g.215303469C>A	NCBI36
NG_012047.2:g.84205G>T
NG_012047.3:g.84212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1912G>T MANE Select	ENSP00000260947.4:p.Ala638Ser
ENST00000421162.2:c.559G>T	ENSP00000392245.2:p.Ala187Ser
ENST00000613192.2:c.167G>T	ENSP00000483275.2:p.Ser56Ile
ENST00000613374.5:c.502G>T	ENSP00000484464.1:p.Ala168Ser
ENST00000613706.5:c.1504G>T	ENSP00000484976.2:p.Ala502Ser
ENST00000617164.5:c.1855G>T	ENSP00000480470.1:p.Ala619Ser
ENST00000619009.5:c.373G>T	ENSP00000482293.1:p.Ala125Ser
ENST00000650978.1:c.3287G>T
ENST00000260947.8:c.1912G>T	ENSP00000260947.4:p.Ala638Ser
ENST00000421162.1:c.559G>T	ENSP00000392245.1:p.Ala187Ser
ENST00000432456.5:c.9G>T
ENST00000455743.5:c.*1532G>T	ENSP00000412186.1:n.*1532G>T
ENST00000471590.5:n.247G>T
ENST00000613192.1:c.82G>T	ENSP00000483275.1:p.Ala28Ser
ENST00000613374.4:c.502G>T	ENSP00000484464.1:p.Ala168Ser
ENST00000613706.4:c.559G>T	ENSP00000484976.1:p.Ala187Ser
ENST00000617164.4:c.1855G>T	ENSP00000480470.1:p.Ala619Ser
ENST00000619009.4:c.373G>T	ENSP00000482293.1:p.Ala125Ser
ENST00000620057.4:c.*578G>T	ENSP00000481988.1:n.*578G>T
NM_000465.3:c.1912G>T	NP_000456.2:p.Ala638Ser
NM_001282543.1:c.1855G>T	NP_001269472.1:p.Ala619Ser
NM_001282545.1:c.559G>T	NP_001269474.1:p.Ala187Ser
NM_001282548.1:c.502G>T	NP_001269477.1:p.Ala168Ser
NM_001282549.1:c.373G>T	NP_001269478.1:p.Ala125Ser
NR_104212.1:n.1905G>T
NR_104215.1:n.1848G>T
NR_104216.1:n.1104G>T
XM_011511567.1:c.1858G>T	XP_011509869.1:p.Ala620Ser
XM_017004613.1:c.2011G>T	XP_016860102.1:p.Ala671Ser
XR_002959322.1:n.2102G>T
NM_000465.4:c.1912G>T MANE Select	NP_000456.2:p.Ala638Ser
NM_001282543.2:c.1855G>T	NP_001269472.1:p.Ala619Ser
NM_001282545.2:c.559G>T	NP_001269474.1:p.Ala187Ser
NM_001282548.2:c.502G>T	NP_001269477.1:p.Ala168Ser
NM_001282549.2:c.373G>T	NP_001269478.1:p.Ala125Ser
NR_104212.2:n.1877G>T
NR_104215.2:n.1820G>T
NR_104216.2:n.1076G>T