Canonical Allele Identifier: CA350450511

Gene: BARD1

Linked Data

• ClinVar Variation Id: 489668
• ClinVar RCV Id: RCV000579675
• dbSNP Id: rs876658193
• MyVariant Identifiers: chr2:g.215593596A>G (hg19) ; chr2:g.214728872A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728872A>G , CM000664.2:g.214728872A>G	GRCh38
NC_000002.11:g.215593596A>G , CM000664.1:g.215593596A>G	GRCh37
NC_000002.10:g.215301841A>G	NCBI36
NG_012047.2:g.85833T>C
NG_012047.3:g.85840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2138T>C MANE Select	ENSP00000260947.4:p.Val713Ala
ENST00000421162.2:c.785T>C	ENSP00000392245.2:p.Val262Ala
ENST00000613192.2:c.*201T>C	ENSP00000483275.2:n.*201T>C
ENST00000613374.5:c.728T>C	ENSP00000484464.1:p.Val243Ala
ENST00000613706.5:c.1730T>C	ENSP00000484976.2:p.Val577Ala
ENST00000617164.5:c.2081T>C	ENSP00000480470.1:p.Val694Ala
ENST00000619009.5:c.599T>C	ENSP00000482293.1:p.Val200Ala
ENST00000650978.1:c.3513T>C
ENST00000260947.8:c.2138T>C	ENSP00000260947.4:p.Val713Ala
ENST00000432456.5:c.281T>C
ENST00000455743.5:c.*1758T>C	ENSP00000412186.1:n.*1758T>C
ENST00000471590.5:n.473T>C
ENST00000613192.1:c.308T>C	ENSP00000483275.1:p.Val103Ala
ENST00000613374.4:c.728T>C	ENSP00000484464.1:p.Val243Ala
ENST00000613706.4:c.785T>C	ENSP00000484976.1:p.Val262Ala
ENST00000617164.4:c.2081T>C	ENSP00000480470.1:p.Val694Ala
ENST00000619009.4:c.599T>C	ENSP00000482293.1:p.Val200Ala
ENST00000620057.4:c.*804T>C	ENSP00000481988.1:n.*804T>C
NM_000465.3:c.2138T>C	NP_000456.2:p.Val713Ala
NM_001282543.1:c.2081T>C	NP_001269472.1:p.Val694Ala
NM_001282545.1:c.785T>C	NP_001269474.1:p.Val262Ala
NM_001282548.1:c.728T>C	NP_001269477.1:p.Val243Ala
NM_001282549.1:c.599T>C	NP_001269478.1:p.Val200Ala
NR_104212.1:n.2131T>C
NR_104215.1:n.2074T>C
NR_104216.1:n.1330T>C
XM_011511567.1:c.2084T>C	XP_011509869.1:p.Val695Ala
XM_017004613.1:c.2237T>C	XP_016860102.1:p.Val746Ala
XR_002959322.1:n.2504T>C
NM_000465.4:c.2138T>C MANE Select	NP_000456.2:p.Val713Ala
NM_001282543.2:c.2081T>C	NP_001269472.1:p.Val694Ala
NM_001282545.2:c.785T>C	NP_001269474.1:p.Val262Ala
NM_001282548.2:c.728T>C	NP_001269477.1:p.Val243Ala
NM_001282549.2:c.599T>C	NP_001269478.1:p.Val200Ala
NR_104212.2:n.2103T>C
NR_104215.2:n.2046T>C
NR_104216.2:n.1302T>C