Canonical Allele Identifier: CA350456085

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1040819
• ClinVar RCV Id: RCV001344536
• dbSNP Id: rs1694996136
• MyVariant Identifiers: chr2:g.215645849G>T (hg19) ; chr2:g.214781125G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781125G>T , CM000664.2:g.214781125G>T	GRCh38
NC_000002.11:g.215645849G>T , CM000664.1:g.215645849G>T	GRCh37
NC_000002.10:g.215354094G>T	NCBI36
NG_012047.2:g.33580C>A
NG_012047.3:g.33587C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.749C>A MANE Select	ENSP00000260947.4:p.Ser250Tyr
ENST00000421162.2:c.215+15936C>A	ENSP00000392245.2:n.215+15936C>A
ENST00000613192.2:c.158+28287C>A	ENSP00000483275.2:n.158+28287C>A
ENST00000613374.5:c.158+28287C>A	ENSP00000484464.1:n.158+28287C>A
ENST00000613706.5:c.749C>A	ENSP00000484976.2:p.Ser250Tyr
ENST00000617164.5:c.692C>A	ENSP00000480470.1:p.Ser231Tyr
ENST00000619009.5:c.364+11172C>A	ENSP00000482293.1:n.364+11172C>A
ENST00000650978.1:c.591C>A
ENST00000260947.8:c.749C>A	ENSP00000260947.4:p.Ser250Tyr
ENST00000421162.1:c.215+15936C>A	ENSP00000392245.1:n.215+15936C>A
ENST00000455743.5:c.*369C>A	ENSP00000412186.1:n.*369C>A
ENST00000471787.1:n.644C>A
ENST00000613192.1:c.73+28287C>A	ENSP00000483275.1:n.73+28287C>A
ENST00000613374.4:c.158+28287C>A	ENSP00000484464.1:n.158+28287C>A
ENST00000613706.4:c.215+15936C>A	ENSP00000484976.1:n.215+15936C>A
ENST00000617164.4:c.692C>A	ENSP00000480470.1:p.Ser231Tyr
ENST00000619009.4:c.364+11172C>A	ENSP00000482293.1:n.364+11172C>A
ENST00000620057.4:c.364+11172C>A	ENSP00000481988.1:n.364+11172C>A
NM_000465.3:c.749C>A	NP_000456.2:p.Ser250Tyr
NM_001282543.1:c.692C>A	NP_001269472.1:p.Ser231Tyr
NM_001282545.1:c.215+15936C>A	NP_001269474.1:n.215+15936C>A
NM_001282548.1:c.158+28287C>A	NP_001269477.1:n.158+28287C>A
NM_001282549.1:c.364+11172C>A	NP_001269478.1:n.364+11172C>A
NR_104212.1:n.742C>A
NR_104215.1:n.685C>A
NR_104216.1:n.506+11172C>A
XM_011511567.1:c.695C>A	XP_011509869.1:p.Ser232Tyr
XM_011511568.1:c.749C>A	XP_011509870.1:p.Ser250Tyr
XM_017004613.1:c.848C>A	XP_016860102.1:p.Ser283Tyr
XM_017004614.1:c.848C>A	XP_016860103.1:p.Ser283Tyr
XR_002959322.1:n.939C>A
NM_000465.4:c.749C>A MANE Select	NP_000456.2:p.Ser250Tyr
NM_001282543.2:c.692C>A	NP_001269472.1:p.Ser231Tyr
NM_001282545.2:c.215+15936C>A	NP_001269474.1:n.215+15936C>A
NM_001282548.2:c.158+28287C>A	NP_001269477.1:n.158+28287C>A
NM_001282549.2:c.364+11172C>A	NP_001269478.1:n.364+11172C>A
NR_104212.2:n.714C>A
NR_104215.2:n.657C>A
NR_104216.2:n.478+11172C>A