Canonical Allele Identifier: CA350453360

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215610580T>G (hg19) ; chr2:g.214745856T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745856T>G , CM000664.2:g.214745856T>G	GRCh38
NC_000002.11:g.215610580T>G , CM000664.1:g.215610580T>G	GRCh37
NC_000002.10:g.215318825T>G	NCBI36
NG_012047.2:g.68849A>C
NG_012047.3:g.68856A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1678-2A>C MANE Select	ENSP00000260947.4:n.1678-2A>C
ENST00000421162.2:c.325-2A>C	ENSP00000392245.2:n.325-2A>C
ENST00000613192.2:c.159-15348A>C	ENSP00000483275.2:n.159-15348A>C
ENST00000613374.5:c.268-2A>C	ENSP00000484464.1:n.268-2A>C
ENST00000613706.5:c.1270-2A>C	ENSP00000484976.2:n.1270-2A>C
ENST00000617164.5:c.1621-2A>C	ENSP00000480470.1:n.1621-2A>C
ENST00000619009.5:c.365-15348A>C	ENSP00000482293.1:n.365-15348A>C
ENST00000650978.1:c.3053-2A>C
ENST00000260947.8:c.1678-2A>C	ENSP00000260947.4:n.1678-2A>C
ENST00000421162.1:c.325-2A>C	ENSP00000392245.1:n.325-2A>C
ENST00000455743.5:c.*1298-2A>C	ENSP00000412186.1:n.*1298-2A>C
ENST00000465841.1:n.33-2A>C
ENST00000613192.1:c.74-15348A>C	ENSP00000483275.1:n.74-15348A>C
ENST00000613374.4:c.268-2A>C	ENSP00000484464.1:n.268-2A>C
ENST00000613706.4:c.325-2A>C	ENSP00000484976.1:n.325-2A>C
ENST00000617164.4:c.1621-2A>C	ENSP00000480470.1:n.1621-2A>C
ENST00000619009.4:c.365-15348A>C	ENSP00000482293.1:n.365-15348A>C
ENST00000620057.4:c.*344-2A>C	ENSP00000481988.1:n.*344-2A>C
NM_000465.3:c.1678-2A>C	NP_000456.2:n.1678-2A>C
NM_001282543.1:c.1621-2A>C	NP_001269472.1:n.1621-2A>C
NM_001282545.1:c.325-2A>C	NP_001269474.1:n.325-2A>C
NM_001282548.1:c.268-2A>C	NP_001269477.1:n.268-2A>C
NM_001282549.1:c.365-15348A>C	NP_001269478.1:n.365-15348A>C
NR_104212.1:n.1671-2A>C
NR_104215.1:n.1614-2A>C
NR_104216.1:n.870-2A>C
XM_011511567.1:c.1624-2A>C	XP_011509869.1:n.1624-2A>C
XM_011511568.1:c.1678-2A>C	XP_011509870.1:n.1678-2A>C
XM_017004613.1:c.1777-2A>C	XP_016860102.1:n.1777-2A>C
XM_017004614.1:c.1777-2A>C	XP_016860103.1:n.1777-2A>C
XR_002959322.1:n.1868-2A>C
NM_000465.4:c.1678-2A>C MANE Select	NP_000456.2:n.1678-2A>C
NM_001282543.2:c.1621-2A>C	NP_001269472.1:n.1621-2A>C
NM_001282545.2:c.325-2A>C	NP_001269474.1:n.325-2A>C
NM_001282548.2:c.268-2A>C	NP_001269477.1:n.268-2A>C
NM_001282549.2:c.365-15348A>C	NP_001269478.1:n.365-15348A>C
NR_104212.2:n.1643-2A>C
NR_104215.2:n.1586-2A>C
NR_104216.2:n.842-2A>C