Canonical Allele Identifier: CA350452735

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215610479T>G (hg19) ; chr2:g.214745755T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745755T>G , CM000664.2:g.214745755T>G	GRCh38
NC_000002.11:g.215610479T>G , CM000664.1:g.215610479T>G	GRCh37
NC_000002.10:g.215318724T>G	NCBI36
NG_012047.2:g.68950A>C
NG_012047.3:g.68957A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1777A>C MANE Select	ENSP00000260947.4:p.Lys593Gln
ENST00000421162.2:c.424A>C	ENSP00000392245.2:p.Lys142Gln
ENST00000613192.2:c.159-15247A>C	ENSP00000483275.2:n.159-15247A>C
ENST00000613374.5:c.367A>C	ENSP00000484464.1:p.Lys123Gln
ENST00000613706.5:c.1369A>C	ENSP00000484976.2:p.Lys457Gln
ENST00000617164.5:c.1720A>C	ENSP00000480470.1:p.Lys574Gln
ENST00000619009.5:c.365-15247A>C	ENSP00000482293.1:n.365-15247A>C
ENST00000650978.1:c.3152A>C
ENST00000260947.8:c.1777A>C	ENSP00000260947.4:p.Lys593Gln
ENST00000421162.1:c.424A>C	ENSP00000392245.1:p.Lys142Gln
ENST00000455743.5:c.*1397A>C	ENSP00000412186.1:n.*1397A>C
ENST00000465841.1:n.132A>C
ENST00000613192.1:c.74-15247A>C	ENSP00000483275.1:n.74-15247A>C
ENST00000613374.4:c.367A>C	ENSP00000484464.1:p.Lys123Gln
ENST00000613706.4:c.424A>C	ENSP00000484976.1:p.Lys142Gln
ENST00000617164.4:c.1720A>C	ENSP00000480470.1:p.Lys574Gln
ENST00000619009.4:c.365-15247A>C	ENSP00000482293.1:n.365-15247A>C
ENST00000620057.4:c.*443A>C	ENSP00000481988.1:n.*443A>C
NM_000465.3:c.1777A>C	NP_000456.2:p.Lys593Gln
NM_001282543.1:c.1720A>C	NP_001269472.1:p.Lys574Gln
NM_001282545.1:c.424A>C	NP_001269474.1:p.Lys142Gln
NM_001282548.1:c.367A>C	NP_001269477.1:p.Lys123Gln
NM_001282549.1:c.365-15247A>C	NP_001269478.1:n.365-15247A>C
NR_104212.1:n.1770A>C
NR_104215.1:n.1713A>C
NR_104216.1:n.969A>C
XM_011511567.1:c.1723A>C	XP_011509869.1:p.Lys575Gln
XM_011511568.1:c.1777A>C	XP_011509870.1:p.Lys593Gln
XM_017004613.1:c.1876A>C	XP_016860102.1:p.Lys626Gln
XM_017004614.1:c.1876A>C	XP_016860103.1:p.Lys626Gln
XR_002959322.1:n.1967A>C
NM_000465.4:c.1777A>C MANE Select	NP_000456.2:p.Lys593Gln
NM_001282543.2:c.1720A>C	NP_001269472.1:p.Lys574Gln
NM_001282545.2:c.424A>C	NP_001269474.1:p.Lys142Gln
NM_001282548.2:c.367A>C	NP_001269477.1:p.Lys123Gln
NM_001282549.2:c.365-15247A>C	NP_001269478.1:n.365-15247A>C
NR_104212.2:n.1742A>C
NR_104215.2:n.1685A>C
NR_104216.2:n.941A>C