Canonical Allele Identifier: CA2090532

Gene: BARD1

Linked Data

• ClinVar Variation Id: 231668
• ClinVar RCV Id: RCV000214677 ; RCV000427814 ; RCV000887325 ; RCV003477734 ; RCV003897492
• dbSNP Id: rs770753803
• ExAC: 2:215674246 G / A
• gnomAD v2: 2-215674246-G-A
• gnomAD v3: 2-214809522-G-A
• gnomAD v4: 2-214809522-G-A
• MyVariant Identifiers: chr2:g.215674246G>A (hg19) ; chr2:g.214809522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809522G>A , CM000664.2:g.214809522G>A	GRCh38
NC_000002.11:g.215674246G>A , CM000664.1:g.215674246G>A	GRCh37
NC_000002.10:g.215382491G>A	NCBI36
NG_012047.2:g.5183C>T
NG_012047.3:g.5190C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.48C>T MANE Select	ENSP00000260947.4:p.Ser16=
ENST00000421162.2:c.48C>T	ENSP00000392245.2:p.Ser16=
ENST00000613192.2:c.48C>T	ENSP00000483275.2:p.Ser16=
ENST00000613374.5:c.48C>T	ENSP00000484464.1:p.Ser16=
ENST00000613706.5:c.48C>T	ENSP00000484976.2:p.Ser16=
ENST00000617164.5:c.48C>T	ENSP00000480470.1:p.Ser16=
ENST00000619009.5:c.48C>T	ENSP00000482293.1:p.Ser16=
ENST00000260947.8:c.48C>T	ENSP00000260947.4:p.Ser16=
ENST00000421162.1:c.48C>T	ENSP00000392245.1:p.Ser16=
ENST00000455743.5:c.48C>T	ENSP00000412186.1:p.Ser16=
ENST00000471787.1:n.149C>T
ENST00000479904.1:n.139C>T
ENST00000613192.1:c.-38C>T	ENSP00000483275.1:n.-38C>T
ENST00000613374.4:c.48C>T	ENSP00000484464.1:p.Ser16=
ENST00000613706.4:c.48C>T	ENSP00000484976.1:p.Ser16=
ENST00000617164.4:c.48C>T	ENSP00000480470.1:p.Ser16=
ENST00000619009.4:c.48C>T	ENSP00000482293.1:p.Ser16=
ENST00000620057.4:c.48C>T	ENSP00000481988.1:p.Ser16=
NM_000465.3:c.48C>T	NP_000456.2:p.Ser16=
NM_001282543.1:c.48C>T	NP_001269472.1:p.Ser16=
NM_001282545.1:c.48C>T	NP_001269474.1:p.Ser16=
NM_001282548.1:c.48C>T	NP_001269477.1:p.Ser16=
NM_001282549.1:c.48C>T	NP_001269478.1:p.Ser16=
NR_104212.1:n.190C>T
NR_104215.1:n.190C>T
NR_104216.1:n.190C>T
XM_011511568.1:c.48C>T	XP_011509870.1:p.Ser16=
XM_017004613.1:c.48C>T	XP_016860102.1:p.Ser16=
XM_017004614.1:c.48C>T	XP_016860103.1:p.Ser16=
XR_002959322.1:n.139C>T
NM_000465.4:c.48C>T MANE Select	NP_000456.2:p.Ser16=
NM_001282543.2:c.48C>T	NP_001269472.1:p.Ser16=
NM_001282545.2:c.48C>T	NP_001269474.1:p.Ser16=
NM_001282548.2:c.48C>T	NP_001269477.1:p.Ser16=
NM_001282549.2:c.48C>T	NP_001269478.1:p.Ser16=
NR_104212.2:n.162C>T
NR_104215.2:n.162C>T
NR_104216.2:n.162C>T