Canonical Allele Identifier: CA167877

Gene: BARD1

Linked Data

• ClinVar Variation Id: 142247
• ClinVar RCV Id: RCV000131256 ; RCV000199235 ; RCV000236301 ; RCV001251335
• dbSNP Id: rs587782333
• ExAC: 2:215645471 G / A
• gnomAD v2: 2-215645471-G-A
• gnomAD v3: 2-214780747-G-A
• gnomAD v4: 2-214780747-G-A
• MyVariant Identifiers: chr2:g.215645471G>A (hg19) ; chr2:g.214780747G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780747G>A , CM000664.2:g.214780747G>A	GRCh38
NC_000002.11:g.215645471G>A , CM000664.1:g.215645471G>A	GRCh37
NC_000002.10:g.215353716G>A	NCBI36
NG_012047.2:g.33958C>T
NG_012047.3:g.33965C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1127C>T MANE Select	ENSP00000260947.4:p.Ser376Leu
ENST00000421162.2:c.215+16314C>T	ENSP00000392245.2:n.215+16314C>T
ENST00000613192.2:c.158+28665C>T	ENSP00000483275.2:n.158+28665C>T
ENST00000613374.5:c.159-28192C>T	ENSP00000484464.1:n.159-28192C>T
ENST00000613706.5:c.906+221C>T	ENSP00000484976.2:n.906+221C>T
ENST00000617164.5:c.1070C>T	ENSP00000480470.1:p.Ser357Leu
ENST00000619009.5:c.364+11550C>T	ENSP00000482293.1:n.364+11550C>T
ENST00000650978.1:c.969C>T
ENST00000260947.8:c.1127C>T	ENSP00000260947.4:p.Ser376Leu
ENST00000421162.1:c.215+16314C>T	ENSP00000392245.1:n.215+16314C>T
ENST00000455743.5:c.*747C>T	ENSP00000412186.1:n.*747C>T
ENST00000613192.1:c.73+28665C>T	ENSP00000483275.1:n.73+28665C>T
ENST00000613374.4:c.159-28192C>T	ENSP00000484464.1:n.159-28192C>T
ENST00000613706.4:c.215+16314C>T	ENSP00000484976.1:n.215+16314C>T
ENST00000617164.4:c.1070C>T	ENSP00000480470.1:p.Ser357Leu
ENST00000619009.4:c.364+11550C>T	ENSP00000482293.1:n.364+11550C>T
ENST00000620057.4:c.365-11435C>T	ENSP00000481988.1:n.365-11435C>T
NM_000465.3:c.1127C>T	NP_000456.2:p.Ser376Leu
NM_001282543.1:c.1070C>T	NP_001269472.1:p.Ser357Leu
NM_001282545.1:c.215+16314C>T	NP_001269474.1:n.215+16314C>T
NM_001282548.1:c.159-28192C>T	NP_001269477.1:n.159-28192C>T
NM_001282549.1:c.364+11550C>T	NP_001269478.1:n.364+11550C>T
NR_104212.1:n.1120C>T
NR_104215.1:n.1063C>T
NR_104216.1:n.507-11435C>T
XM_011511567.1:c.1073C>T	XP_011509869.1:p.Ser358Leu
XM_011511568.1:c.1127C>T	XP_011509870.1:p.Ser376Leu
XM_017004613.1:c.1226C>T	XP_016860102.1:p.Ser409Leu
XM_017004614.1:c.1226C>T	XP_016860103.1:p.Ser409Leu
XR_002959322.1:n.1317C>T
NM_000465.4:c.1127C>T MANE Select	NP_000456.2:p.Ser376Leu
NM_001282543.2:c.1070C>T	NP_001269472.1:p.Ser357Leu
NM_001282545.2:c.215+16314C>T	NP_001269474.1:n.215+16314C>T
NM_001282548.2:c.159-28192C>T	NP_001269477.1:n.159-28192C>T
NM_001282549.2:c.364+11550C>T	NP_001269478.1:n.364+11550C>T
NR_104212.2:n.1092C>T
NR_104215.2:n.1035C>T
NR_104216.2:n.479-11435C>T