Canonical Allele Identifier: CA350454008

Gene: BARD1

Linked Data

• ClinVar Variation Id: 628640
• ClinVar RCV Id: RCV001869092
• dbSNP Id: rs1559423874
• MyVariant Identifiers: chr2:g.215645474G>A (hg19) ; chr2:g.214780750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780750G>A , CM000664.2:g.214780750G>A	GRCh38
NC_000002.11:g.215645474G>A , CM000664.1:g.215645474G>A	GRCh37
NC_000002.10:g.215353719G>A	NCBI36
NG_012047.2:g.33955C>T
NG_012047.3:g.33962C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1124C>T MANE Select	ENSP00000260947.4:p.Thr375Ile
ENST00000421162.2:c.215+16311C>T	ENSP00000392245.2:n.215+16311C>T
ENST00000613192.2:c.158+28662C>T	ENSP00000483275.2:n.158+28662C>T
ENST00000613374.5:c.159-28195C>T	ENSP00000484464.1:n.159-28195C>T
ENST00000613706.5:c.906+218C>T	ENSP00000484976.2:n.906+218C>T
ENST00000617164.5:c.1067C>T	ENSP00000480470.1:p.Thr356Ile
ENST00000619009.5:c.364+11547C>T	ENSP00000482293.1:n.364+11547C>T
ENST00000650978.1:c.966C>T
ENST00000260947.8:c.1124C>T	ENSP00000260947.4:p.Thr375Ile
ENST00000421162.1:c.215+16311C>T	ENSP00000392245.1:n.215+16311C>T
ENST00000455743.5:c.*744C>T	ENSP00000412186.1:n.*744C>T
ENST00000613192.1:c.73+28662C>T	ENSP00000483275.1:n.73+28662C>T
ENST00000613374.4:c.159-28195C>T	ENSP00000484464.1:n.159-28195C>T
ENST00000613706.4:c.215+16311C>T	ENSP00000484976.1:n.215+16311C>T
ENST00000617164.4:c.1067C>T	ENSP00000480470.1:p.Thr356Ile
ENST00000619009.4:c.364+11547C>T	ENSP00000482293.1:n.364+11547C>T
ENST00000620057.4:c.365-11438C>T	ENSP00000481988.1:n.365-11438C>T
NM_000465.3:c.1124C>T	NP_000456.2:p.Thr375Ile
NM_001282543.1:c.1067C>T	NP_001269472.1:p.Thr356Ile
NM_001282545.1:c.215+16311C>T	NP_001269474.1:n.215+16311C>T
NM_001282548.1:c.159-28195C>T	NP_001269477.1:n.159-28195C>T
NM_001282549.1:c.364+11547C>T	NP_001269478.1:n.364+11547C>T
NR_104212.1:n.1117C>T
NR_104215.1:n.1060C>T
NR_104216.1:n.507-11438C>T
XM_011511567.1:c.1070C>T	XP_011509869.1:p.Thr357Ile
XM_011511568.1:c.1124C>T	XP_011509870.1:p.Thr375Ile
XM_017004613.1:c.1223C>T	XP_016860102.1:p.Thr408Ile
XM_017004614.1:c.1223C>T	XP_016860103.1:p.Thr408Ile
XR_002959322.1:n.1314C>T
NM_000465.4:c.1124C>T MANE Select	NP_000456.2:p.Thr375Ile
NM_001282543.2:c.1067C>T	NP_001269472.1:p.Thr356Ile
NM_001282545.2:c.215+16311C>T	NP_001269474.1:n.215+16311C>T
NM_001282548.2:c.159-28195C>T	NP_001269477.1:n.159-28195C>T
NM_001282549.2:c.364+11547C>T	NP_001269478.1:n.364+11547C>T
NR_104212.2:n.1089C>T
NR_104215.2:n.1032C>T
NR_104216.2:n.479-11438C>T