Canonical Allele Identifier: CA350454767

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1415370
• ClinVar RCV Id: RCV001933049
• dbSNP Id: rs771502065
• MyVariant Identifiers: chr2:g.215645644A>C (hg19) ; chr2:g.214780920A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780920A>C , CM000664.2:g.214780920A>C	GRCh38
NC_000002.11:g.215645644A>C , CM000664.1:g.215645644A>C	GRCh37
NC_000002.10:g.215353889A>C	NCBI36
NG_012047.2:g.33785T>G
NG_012047.3:g.33792T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.954T>G MANE Select	ENSP00000260947.4:p.Asn318Lys
ENST00000421162.2:c.215+16141T>G	ENSP00000392245.2:n.215+16141T>G
ENST00000613192.2:c.158+28492T>G	ENSP00000483275.2:n.158+28492T>G
ENST00000613374.5:c.159-28365T>G	ENSP00000484464.1:n.159-28365T>G
ENST00000613706.5:c.906+48T>G	ENSP00000484976.2:n.906+48T>G
ENST00000617164.5:c.897T>G	ENSP00000480470.1:p.Asn299Lys
ENST00000619009.5:c.364+11377T>G	ENSP00000482293.1:n.364+11377T>G
ENST00000650978.1:c.796T>G
ENST00000260947.8:c.954T>G	ENSP00000260947.4:p.Asn318Lys
ENST00000421162.1:c.215+16141T>G	ENSP00000392245.1:n.215+16141T>G
ENST00000455743.5:c.*574T>G	ENSP00000412186.1:n.*574T>G
ENST00000471787.1:n.849T>G
ENST00000613192.1:c.73+28492T>G	ENSP00000483275.1:n.73+28492T>G
ENST00000613374.4:c.159-28365T>G	ENSP00000484464.1:n.159-28365T>G
ENST00000613706.4:c.215+16141T>G	ENSP00000484976.1:n.215+16141T>G
ENST00000617164.4:c.897T>G	ENSP00000480470.1:p.Asn299Lys
ENST00000619009.4:c.364+11377T>G	ENSP00000482293.1:n.364+11377T>G
ENST00000620057.4:c.364+11377T>G	ENSP00000481988.1:n.364+11377T>G
NM_000465.3:c.954T>G	NP_000456.2:p.Asn318Lys
NM_001282543.1:c.897T>G	NP_001269472.1:p.Asn299Lys
NM_001282545.1:c.215+16141T>G	NP_001269474.1:n.215+16141T>G
NM_001282548.1:c.159-28365T>G	NP_001269477.1:n.159-28365T>G
NM_001282549.1:c.364+11377T>G	NP_001269478.1:n.364+11377T>G
NR_104212.1:n.947T>G
NR_104215.1:n.890T>G
NR_104216.1:n.506+11377T>G
XM_011511567.1:c.900T>G	XP_011509869.1:p.Asn300Lys
XM_011511568.1:c.954T>G	XP_011509870.1:p.Asn318Lys
XM_017004613.1:c.1053T>G	XP_016860102.1:p.Asn351Lys
XM_017004614.1:c.1053T>G	XP_016860103.1:p.Asn351Lys
XR_002959322.1:n.1144T>G
NM_000465.4:c.954T>G MANE Select	NP_000456.2:p.Asn318Lys
NM_001282543.2:c.897T>G	NP_001269472.1:p.Asn299Lys
NM_001282545.2:c.215+16141T>G	NP_001269474.1:n.215+16141T>G
NM_001282548.2:c.159-28365T>G	NP_001269477.1:n.159-28365T>G
NM_001282549.2:c.364+11377T>G	NP_001269478.1:n.364+11377T>G
NR_104212.2:n.919T>G
NR_104215.2:n.862T>G
NR_104216.2:n.478+11377T>G