Canonical Allele Identifier: CA350455102

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645690A>G (hg19) ; chr2:g.214780966A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780966A>G , CM000664.2:g.214780966A>G	GRCh38
NC_000002.11:g.215645690A>G , CM000664.1:g.215645690A>G	GRCh37
NC_000002.10:g.215353935A>G	NCBI36
NG_012047.2:g.33739T>C
NG_012047.3:g.33746T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.908T>C MANE Select	ENSP00000260947.4:p.Val303Ala
ENST00000421162.2:c.215+16095T>C	ENSP00000392245.2:n.215+16095T>C
ENST00000613192.2:c.158+28446T>C	ENSP00000483275.2:n.158+28446T>C
ENST00000613374.5:c.159-28411T>C	ENSP00000484464.1:n.159-28411T>C
ENST00000613706.5:c.906+2T>C	ENSP00000484976.2:n.906+2T>C
ENST00000617164.5:c.851T>C	ENSP00000480470.1:p.Val284Ala
ENST00000619009.5:c.364+11331T>C	ENSP00000482293.1:n.364+11331T>C
ENST00000650978.1:c.750T>C
ENST00000260947.8:c.908T>C	ENSP00000260947.4:p.Val303Ala
ENST00000421162.1:c.215+16095T>C	ENSP00000392245.1:n.215+16095T>C
ENST00000455743.5:c.*528T>C	ENSP00000412186.1:n.*528T>C
ENST00000471787.1:n.803T>C
ENST00000613192.1:c.73+28446T>C	ENSP00000483275.1:n.73+28446T>C
ENST00000613374.4:c.159-28411T>C	ENSP00000484464.1:n.159-28411T>C
ENST00000613706.4:c.215+16095T>C	ENSP00000484976.1:n.215+16095T>C
ENST00000617164.4:c.851T>C	ENSP00000480470.1:p.Val284Ala
ENST00000619009.4:c.364+11331T>C	ENSP00000482293.1:n.364+11331T>C
ENST00000620057.4:c.364+11331T>C	ENSP00000481988.1:n.364+11331T>C
NM_000465.3:c.908T>C	NP_000456.2:p.Val303Ala
NM_001282543.1:c.851T>C	NP_001269472.1:p.Val284Ala
NM_001282545.1:c.215+16095T>C	NP_001269474.1:n.215+16095T>C
NM_001282548.1:c.159-28411T>C	NP_001269477.1:n.159-28411T>C
NM_001282549.1:c.364+11331T>C	NP_001269478.1:n.364+11331T>C
NR_104212.1:n.901T>C
NR_104215.1:n.844T>C
NR_104216.1:n.506+11331T>C
XM_011511567.1:c.854T>C	XP_011509869.1:p.Val285Ala
XM_011511568.1:c.908T>C	XP_011509870.1:p.Val303Ala
XM_017004613.1:c.1007T>C	XP_016860102.1:p.Val336Ala
XM_017004614.1:c.1007T>C	XP_016860103.1:p.Val336Ala
XR_002959322.1:n.1098T>C
NM_000465.4:c.908T>C MANE Select	NP_000456.2:p.Val303Ala
NM_001282543.2:c.851T>C	NP_001269472.1:p.Val284Ala
NM_001282545.2:c.215+16095T>C	NP_001269474.1:n.215+16095T>C
NM_001282548.2:c.159-28411T>C	NP_001269477.1:n.159-28411T>C
NM_001282549.2:c.364+11331T>C	NP_001269478.1:n.364+11331T>C
NR_104212.2:n.873T>C
NR_104215.2:n.816T>C
NR_104216.2:n.478+11331T>C