Canonical Allele Identifier: CA431139111

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479188
• ClinVar RCV Id: RCV000568129 ; RCV000780947 ; RCV001455162
• dbSNP Id: rs1553612477
• gnomAD v4: 2-214730426-G-A
• MyVariant Identifiers: chr2:g.215595150G>A (hg19) ; chr2:g.214730426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730426G>A , CM000664.2:g.214730426G>A	GRCh38
NC_000002.11:g.215595150G>A , CM000664.1:g.215595150G>A	GRCh37
NC_000002.10:g.215303395G>A	NCBI36
NG_012047.2:g.84279C>T
NG_012047.3:g.84286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1986C>T MANE Select	ENSP00000260947.4:p.Leu662=
ENST00000421162.2:c.633C>T	ENSP00000392245.2:p.Leu211=
ENST00000613192.2:c.*49C>T	ENSP00000483275.2:n.*49C>T
ENST00000613374.5:c.576C>T	ENSP00000484464.1:p.Leu192=
ENST00000613706.5:c.1578C>T	ENSP00000484976.2:p.Leu526=
ENST00000617164.5:c.1929C>T	ENSP00000480470.1:p.Leu643=
ENST00000619009.5:c.447C>T	ENSP00000482293.1:p.Leu149=
ENST00000650978.1:c.3361C>T
ENST00000260947.8:c.1986C>T	ENSP00000260947.4:p.Leu662=
ENST00000421162.1:c.633C>T	ENSP00000392245.1:p.Leu211=
ENST00000432456.5:c.83C>T
ENST00000455743.5:c.*1606C>T	ENSP00000412186.1:n.*1606C>T
ENST00000471590.5:n.321C>T
ENST00000613192.1:c.156C>T	ENSP00000483275.1:p.Leu52=
ENST00000613374.4:c.576C>T	ENSP00000484464.1:p.Leu192=
ENST00000613706.4:c.633C>T	ENSP00000484976.1:p.Leu211=
ENST00000617164.4:c.1929C>T	ENSP00000480470.1:p.Leu643=
ENST00000619009.4:c.447C>T	ENSP00000482293.1:p.Leu149=
ENST00000620057.4:c.*652C>T	ENSP00000481988.1:n.*652C>T
NM_000465.3:c.1986C>T	NP_000456.2:p.Leu662=
NM_001282543.1:c.1929C>T	NP_001269472.1:p.Leu643=
NM_001282545.1:c.633C>T	NP_001269474.1:p.Leu211=
NM_001282548.1:c.576C>T	NP_001269477.1:p.Leu192=
NM_001282549.1:c.447C>T	NP_001269478.1:p.Leu149=
NR_104212.1:n.1979C>T
NR_104215.1:n.1922C>T
NR_104216.1:n.1178C>T
XM_011511567.1:c.1932C>T	XP_011509869.1:p.Leu644=
XM_017004613.1:c.2085C>T	XP_016860102.1:p.Leu695=
XR_002959322.1:n.2176C>T
NM_000465.4:c.1986C>T MANE Select	NP_000456.2:p.Leu662=
NM_001282543.2:c.1929C>T	NP_001269472.1:p.Leu643=
NM_001282545.2:c.633C>T	NP_001269474.1:p.Leu211=
NM_001282548.2:c.576C>T	NP_001269477.1:p.Leu192=
NM_001282549.2:c.447C>T	NP_001269478.1:p.Leu149=
NR_104212.2:n.1951C>T
NR_104215.2:n.1894C>T
NR_104216.2:n.1150C>T