Canonical Allele Identifier: CA350457650

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1741886
• ClinVar RCV Id: RCV002342453
• MyVariant Identifiers: chr2:g.215646138C>A (hg19) ; chr2:g.214781414C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781414C>A , CM000664.2:g.214781414C>A	GRCh38
NC_000002.11:g.215646138C>A , CM000664.1:g.215646138C>A	GRCh37
NC_000002.10:g.215354383C>A	NCBI36
NG_012047.2:g.33291G>T
NG_012047.3:g.33298G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.460G>T MANE Select	ENSP00000260947.4:p.Val154Phe
ENST00000421162.2:c.215+15647G>T	ENSP00000392245.2:n.215+15647G>T
ENST00000613192.2:c.158+27998G>T	ENSP00000483275.2:n.158+27998G>T
ENST00000613374.5:c.158+27998G>T	ENSP00000484464.1:n.158+27998G>T
ENST00000613706.5:c.460G>T	ENSP00000484976.2:p.Val154Phe
ENST00000617164.5:c.403G>T	ENSP00000480470.1:p.Val135Phe
ENST00000619009.5:c.364+10883G>T	ENSP00000482293.1:n.364+10883G>T
ENST00000650978.1:c.302G>T
ENST00000260947.8:c.460G>T	ENSP00000260947.4:p.Val154Phe
ENST00000421162.1:c.215+15647G>T	ENSP00000392245.1:n.215+15647G>T
ENST00000455743.5:c.*80G>T	ENSP00000412186.1:n.*80G>T
ENST00000471787.1:n.355G>T
ENST00000613192.1:c.73+27998G>T	ENSP00000483275.1:n.73+27998G>T
ENST00000613374.4:c.158+27998G>T	ENSP00000484464.1:n.158+27998G>T
ENST00000613706.4:c.215+15647G>T	ENSP00000484976.1:n.215+15647G>T
ENST00000617164.4:c.403G>T	ENSP00000480470.1:p.Val135Phe
ENST00000619009.4:c.364+10883G>T	ENSP00000482293.1:n.364+10883G>T
ENST00000620057.4:c.364+10883G>T	ENSP00000481988.1:n.364+10883G>T
NM_000465.3:c.460G>T	NP_000456.2:p.Val154Phe
NM_001282543.1:c.403G>T	NP_001269472.1:p.Val135Phe
NM_001282545.1:c.215+15647G>T	NP_001269474.1:n.215+15647G>T
NM_001282548.1:c.158+27998G>T	NP_001269477.1:n.158+27998G>T
NM_001282549.1:c.364+10883G>T	NP_001269478.1:n.364+10883G>T
NR_104212.1:n.453G>T
NR_104215.1:n.396G>T
NR_104216.1:n.506+10883G>T
XM_011511567.1:c.406G>T	XP_011509869.1:p.Val136Phe
XM_011511568.1:c.460G>T	XP_011509870.1:p.Val154Phe
XM_017004613.1:c.559G>T	XP_016860102.1:p.Val187Phe
XM_017004614.1:c.559G>T	XP_016860103.1:p.Val187Phe
XR_002959322.1:n.650G>T
NM_000465.4:c.460G>T MANE Select	NP_000456.2:p.Val154Phe
NM_001282543.2:c.403G>T	NP_001269472.1:p.Val135Phe
NM_001282545.2:c.215+15647G>T	NP_001269474.1:n.215+15647G>T
NM_001282548.2:c.158+27998G>T	NP_001269477.1:n.158+27998G>T
NM_001282549.2:c.364+10883G>T	NP_001269478.1:n.364+10883G>T
NR_104212.2:n.425G>T
NR_104215.2:n.368G>T
NR_104216.2:n.478+10883G>T