Canonical Allele Identifier: CA431145218

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2905096
• ClinVar RCV Id: RCV003607050
• MyVariant Identifiers: chr2:g.215609855T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745131T>G , CM000664.2:g.214745131T>G	GRCh38
NC_000002.11:g.215609855T>G , CM000664.1:g.215609855T>G	GRCh37
NC_000002.10:g.215318100T>G	NCBI36
NG_012047.2:g.69574A>C
NG_012047.3:g.69581A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1839A>C MANE Select	ENSP00000260947.4:p.Ala613=
ENST00000421162.2:c.486A>C	ENSP00000392245.2:p.Ala162=
ENST00000613192.2:c.159-14623A>C	ENSP00000483275.2:n.159-14623A>C
ENST00000613374.5:c.429A>C	ENSP00000484464.1:p.Ala143=
ENST00000613706.5:c.1431A>C	ENSP00000484976.2:p.Ala477=
ENST00000617164.5:c.1782A>C	ENSP00000480470.1:p.Ala594=
ENST00000619009.5:c.365-14623A>C	ENSP00000482293.1:n.365-14623A>C
ENST00000650978.1:c.3214A>C
ENST00000260947.8:c.1839A>C	ENSP00000260947.4:p.Ala613=
ENST00000421162.1:c.486A>C	ENSP00000392245.1:p.Ala162=
ENST00000455743.5:c.*1459A>C	ENSP00000412186.1:n.*1459A>C
ENST00000613192.1:c.74-14623A>C	ENSP00000483275.1:n.74-14623A>C
ENST00000613374.4:c.429A>C	ENSP00000484464.1:p.Ala143=
ENST00000613706.4:c.486A>C	ENSP00000484976.1:p.Ala162=
ENST00000617164.4:c.1782A>C	ENSP00000480470.1:p.Ala594=
ENST00000619009.4:c.365-14623A>C	ENSP00000482293.1:n.365-14623A>C
ENST00000620057.4:c.*505A>C	ENSP00000481988.1:n.*505A>C
NM_000465.3:c.1839A>C	NP_000456.2:p.Ala613=
NM_001282543.1:c.1782A>C	NP_001269472.1:p.Ala594=
NM_001282545.1:c.486A>C	NP_001269474.1:p.Ala162=
NM_001282548.1:c.429A>C	NP_001269477.1:p.Ala143=
NM_001282549.1:c.365-14623A>C	NP_001269478.1:n.365-14623A>C
NR_104212.1:n.1832A>C
NR_104215.1:n.1775A>C
NR_104216.1:n.1031A>C
XM_011511567.1:c.1785A>C	XP_011509869.1:p.Ala595=
XM_011511568.1:c.1839A>C	XP_011509870.1:p.Ala613=
XM_017004613.1:c.1938A>C	XP_016860102.1:p.Ala646=
XM_017004614.1:c.1938A>C	XP_016860103.1:p.Ala646=
XR_002959322.1:n.2029A>C
NM_000465.4:c.1839A>C MANE Select	NP_000456.2:p.Ala613=
NM_001282543.2:c.1782A>C	NP_001269472.1:p.Ala594=
NM_001282545.2:c.486A>C	NP_001269474.1:p.Ala162=
NM_001282548.2:c.429A>C	NP_001269477.1:p.Ala143=
NM_001282549.2:c.365-14623A>C	NP_001269478.1:n.365-14623A>C
NR_104212.2:n.1804A>C
NR_104215.2:n.1747A>C
NR_104216.2:n.1003A>C