Canonical Allele Identifier: CA350454500

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1777801
• ClinVar RCV Id: RCV002405949
• COSMIC: COSM5755977 ; COSM5755978
• MyVariant Identifiers: chr2:g.215617172A>G (hg19) ; chr2:g.214752448A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752448A>G , CM000664.2:g.214752448A>G	GRCh38
NC_000002.11:g.215617172A>G , CM000664.1:g.215617172A>G	GRCh37
NC_000002.10:g.215325417A>G	NCBI36
NG_012047.2:g.62257T>C
NG_012047.3:g.62264T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1676T>C MANE Select	ENSP00000260947.4:p.Val559Ala
ENST00000421162.2:c.323T>C	ENSP00000392245.2:p.Val108Ala
ENST00000613192.2:c.159-21940T>C	ENSP00000483275.2:n.159-21940T>C
ENST00000613374.5:c.266T>C	ENSP00000484464.1:p.Val89Ala
ENST00000613706.5:c.1268T>C	ENSP00000484976.2:p.Val423Ala
ENST00000617164.5:c.1619T>C	ENSP00000480470.1:p.Val540Ala
ENST00000619009.5:c.365-21940T>C	ENSP00000482293.1:n.365-21940T>C
ENST00000650978.1:c.3051T>C
ENST00000260947.8:c.1676T>C	ENSP00000260947.4:p.Val559Ala
ENST00000421162.1:c.323T>C	ENSP00000392245.1:p.Val108Ala
ENST00000455743.5:c.*1296T>C	ENSP00000412186.1:n.*1296T>C
ENST00000465841.1:n.31T>C
ENST00000613192.1:c.74-21940T>C	ENSP00000483275.1:n.74-21940T>C
ENST00000613374.4:c.266T>C	ENSP00000484464.1:p.Val89Ala
ENST00000613706.4:c.323T>C	ENSP00000484976.1:p.Val108Ala
ENST00000617164.4:c.1619T>C	ENSP00000480470.1:p.Val540Ala
ENST00000619009.4:c.365-21940T>C	ENSP00000482293.1:n.365-21940T>C
ENST00000620057.4:c.*342T>C	ENSP00000481988.1:n.*342T>C
NM_000465.3:c.1676T>C	NP_000456.2:p.Val559Ala
NM_001282543.1:c.1619T>C	NP_001269472.1:p.Val540Ala
NM_001282545.1:c.323T>C	NP_001269474.1:p.Val108Ala
NM_001282548.1:c.266T>C	NP_001269477.1:p.Val89Ala
NM_001282549.1:c.365-21940T>C	NP_001269478.1:n.365-21940T>C
NR_104212.1:n.1669T>C
NR_104215.1:n.1612T>C
NR_104216.1:n.868T>C
XM_011511567.1:c.1622T>C	XP_011509869.1:p.Val541Ala
XM_011511568.1:c.1676T>C	XP_011509870.1:p.Val559Ala
XM_017004613.1:c.1775T>C	XP_016860102.1:p.Val592Ala
XM_017004614.1:c.1775T>C	XP_016860103.1:p.Val592Ala
XR_002959322.1:n.1866T>C
NM_000465.4:c.1676T>C MANE Select	NP_000456.2:p.Val559Ala
NM_001282543.2:c.1619T>C	NP_001269472.1:p.Val540Ala
NM_001282545.2:c.323T>C	NP_001269474.1:p.Val108Ala
NM_001282548.2:c.266T>C	NP_001269477.1:p.Val89Ala
NM_001282549.2:c.365-21940T>C	NP_001269478.1:n.365-21940T>C
NR_104212.2:n.1641T>C
NR_104215.2:n.1584T>C
NR_104216.2:n.840T>C