Canonical Allele Identifier: CA350454887

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215617239C>T (hg19) ; chr2:g.214752515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752515C>T , CM000664.2:g.214752515C>T	GRCh38
NC_000002.11:g.215617239C>T , CM000664.1:g.215617239C>T	GRCh37
NC_000002.10:g.215325484C>T	NCBI36
NG_012047.2:g.62190G>A
NG_012047.3:g.62197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1609G>A MANE Select	ENSP00000260947.4:p.Glu537Lys
ENST00000421162.2:c.256G>A	ENSP00000392245.2:p.Glu86Lys
ENST00000613192.2:c.159-22007G>A	ENSP00000483275.2:n.159-22007G>A
ENST00000613374.5:c.199G>A	ENSP00000484464.1:p.Glu67Lys
ENST00000613706.5:c.1201G>A	ENSP00000484976.2:p.Glu401Lys
ENST00000617164.5:c.1552G>A	ENSP00000480470.1:p.Glu518Lys
ENST00000619009.5:c.365-22007G>A	ENSP00000482293.1:n.365-22007G>A
ENST00000650978.1:c.2984G>A
ENST00000260947.8:c.1609G>A	ENSP00000260947.4:p.Glu537Lys
ENST00000421162.1:c.256G>A	ENSP00000392245.1:p.Glu86Lys
ENST00000455743.5:c.*1229G>A	ENSP00000412186.1:n.*1229G>A
ENST00000613192.1:c.74-22007G>A	ENSP00000483275.1:n.74-22007G>A
ENST00000613374.4:c.199G>A	ENSP00000484464.1:p.Glu67Lys
ENST00000613706.4:c.256G>A	ENSP00000484976.1:p.Glu86Lys
ENST00000617164.4:c.1552G>A	ENSP00000480470.1:p.Glu518Lys
ENST00000619009.4:c.365-22007G>A	ENSP00000482293.1:n.365-22007G>A
ENST00000620057.4:c.*275G>A	ENSP00000481988.1:n.*275G>A
NM_000465.3:c.1609G>A	NP_000456.2:p.Glu537Lys
NM_001282543.1:c.1552G>A	NP_001269472.1:p.Glu518Lys
NM_001282545.1:c.256G>A	NP_001269474.1:p.Glu86Lys
NM_001282548.1:c.199G>A	NP_001269477.1:p.Glu67Lys
NM_001282549.1:c.365-22007G>A	NP_001269478.1:n.365-22007G>A
NR_104212.1:n.1602G>A
NR_104215.1:n.1545G>A
NR_104216.1:n.801G>A
XM_011511567.1:c.1555G>A	XP_011509869.1:p.Glu519Lys
XM_011511568.1:c.1609G>A	XP_011509870.1:p.Glu537Lys
XM_017004613.1:c.1708G>A	XP_016860102.1:p.Glu570Lys
XM_017004614.1:c.1708G>A	XP_016860103.1:p.Glu570Lys
XR_002959322.1:n.1799G>A
NM_000465.4:c.1609G>A MANE Select	NP_000456.2:p.Glu537Lys
NM_001282543.2:c.1552G>A	NP_001269472.1:p.Glu518Lys
NM_001282545.2:c.256G>A	NP_001269474.1:p.Glu86Lys
NM_001282548.2:c.199G>A	NP_001269477.1:p.Glu67Lys
NM_001282549.2:c.365-22007G>A	NP_001269478.1:n.365-22007G>A
NR_104212.2:n.1574G>A
NR_104215.2:n.1517G>A
NR_104216.2:n.773G>A