Canonical Allele Identifier: CA350455627

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2010445
• ClinVar RCV Id: RCV002833990
• MyVariant Identifiers: chr2:g.215645799T>A (hg19) ; chr2:g.214781075T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781075T>A , CM000664.2:g.214781075T>A	GRCh38
NC_000002.11:g.215645799T>A , CM000664.1:g.215645799T>A	GRCh37
NC_000002.10:g.215354044T>A	NCBI36
NG_012047.2:g.33630A>T
NG_012047.3:g.33637A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.799A>T MANE Select	ENSP00000260947.4:p.Thr267Ser
ENST00000421162.2:c.215+15986A>T	ENSP00000392245.2:n.215+15986A>T
ENST00000613192.2:c.158+28337A>T	ENSP00000483275.2:n.158+28337A>T
ENST00000613374.5:c.158+28337A>T	ENSP00000484464.1:n.158+28337A>T
ENST00000613706.5:c.799A>T	ENSP00000484976.2:p.Thr267Ser
ENST00000617164.5:c.742A>T	ENSP00000480470.1:p.Thr248Ser
ENST00000619009.5:c.364+11222A>T	ENSP00000482293.1:n.364+11222A>T
ENST00000650978.1:c.641A>T
ENST00000260947.8:c.799A>T	ENSP00000260947.4:p.Thr267Ser
ENST00000421162.1:c.215+15986A>T	ENSP00000392245.1:n.215+15986A>T
ENST00000455743.5:c.*419A>T	ENSP00000412186.1:n.*419A>T
ENST00000471787.1:n.694A>T
ENST00000613192.1:c.73+28337A>T	ENSP00000483275.1:n.73+28337A>T
ENST00000613374.4:c.158+28337A>T	ENSP00000484464.1:n.158+28337A>T
ENST00000613706.4:c.215+15986A>T	ENSP00000484976.1:n.215+15986A>T
ENST00000617164.4:c.742A>T	ENSP00000480470.1:p.Thr248Ser
ENST00000619009.4:c.364+11222A>T	ENSP00000482293.1:n.364+11222A>T
ENST00000620057.4:c.364+11222A>T	ENSP00000481988.1:n.364+11222A>T
NM_000465.3:c.799A>T	NP_000456.2:p.Thr267Ser
NM_001282543.1:c.742A>T	NP_001269472.1:p.Thr248Ser
NM_001282545.1:c.215+15986A>T	NP_001269474.1:n.215+15986A>T
NM_001282548.1:c.158+28337A>T	NP_001269477.1:n.158+28337A>T
NM_001282549.1:c.364+11222A>T	NP_001269478.1:n.364+11222A>T
NR_104212.1:n.792A>T
NR_104215.1:n.735A>T
NR_104216.1:n.506+11222A>T
XM_011511567.1:c.745A>T	XP_011509869.1:p.Thr249Ser
XM_011511568.1:c.799A>T	XP_011509870.1:p.Thr267Ser
XM_017004613.1:c.898A>T	XP_016860102.1:p.Thr300Ser
XM_017004614.1:c.898A>T	XP_016860103.1:p.Thr300Ser
XR_002959322.1:n.989A>T
NM_000465.4:c.799A>T MANE Select	NP_000456.2:p.Thr267Ser
NM_001282543.2:c.742A>T	NP_001269472.1:p.Thr248Ser
NM_001282545.2:c.215+15986A>T	NP_001269474.1:n.215+15986A>T
NM_001282548.2:c.158+28337A>T	NP_001269477.1:n.158+28337A>T
NM_001282549.2:c.364+11222A>T	NP_001269478.1:n.364+11222A>T
NR_104212.2:n.764A>T
NR_104215.2:n.707A>T
NR_104216.2:n.478+11222A>T