Canonical Allele Identifier: CA350454574

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215617183G>T (hg19) ; chr2:g.214752459G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752459G>T , CM000664.2:g.214752459G>T	GRCh38
NC_000002.11:g.215617183G>T , CM000664.1:g.215617183G>T	GRCh37
NC_000002.10:g.215325428G>T	NCBI36
NG_012047.2:g.62246C>A
NG_012047.3:g.62253C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1665C>A MANE Select	ENSP00000260947.4:p.Ser555Arg
ENST00000421162.2:c.312C>A	ENSP00000392245.2:p.Ser104Arg
ENST00000613192.2:c.159-21951C>A	ENSP00000483275.2:n.159-21951C>A
ENST00000613374.5:c.255C>A	ENSP00000484464.1:p.Ser85Arg
ENST00000613706.5:c.1257C>A	ENSP00000484976.2:p.Ser419Arg
ENST00000617164.5:c.1608C>A	ENSP00000480470.1:p.Ser536Arg
ENST00000619009.5:c.365-21951C>A	ENSP00000482293.1:n.365-21951C>A
ENST00000650978.1:c.3040C>A
ENST00000260947.8:c.1665C>A	ENSP00000260947.4:p.Ser555Arg
ENST00000421162.1:c.312C>A	ENSP00000392245.1:p.Ser104Arg
ENST00000455743.5:c.*1285C>A	ENSP00000412186.1:n.*1285C>A
ENST00000465841.1:n.20C>A
ENST00000613192.1:c.74-21951C>A	ENSP00000483275.1:n.74-21951C>A
ENST00000613374.4:c.255C>A	ENSP00000484464.1:p.Ser85Arg
ENST00000613706.4:c.312C>A	ENSP00000484976.1:p.Ser104Arg
ENST00000617164.4:c.1608C>A	ENSP00000480470.1:p.Ser536Arg
ENST00000619009.4:c.365-21951C>A	ENSP00000482293.1:n.365-21951C>A
ENST00000620057.4:c.*331C>A	ENSP00000481988.1:n.*331C>A
NM_000465.3:c.1665C>A	NP_000456.2:p.Ser555Arg
NM_001282543.1:c.1608C>A	NP_001269472.1:p.Ser536Arg
NM_001282545.1:c.312C>A	NP_001269474.1:p.Ser104Arg
NM_001282548.1:c.255C>A	NP_001269477.1:p.Ser85Arg
NM_001282549.1:c.365-21951C>A	NP_001269478.1:n.365-21951C>A
NR_104212.1:n.1658C>A
NR_104215.1:n.1601C>A
NR_104216.1:n.857C>A
XM_011511567.1:c.1611C>A	XP_011509869.1:p.Ser537Arg
XM_011511568.1:c.1665C>A	XP_011509870.1:p.Ser555Arg
XM_017004613.1:c.1764C>A	XP_016860102.1:p.Ser588Arg
XM_017004614.1:c.1764C>A	XP_016860103.1:p.Ser588Arg
XR_002959322.1:n.1855C>A
NM_000465.4:c.1665C>A MANE Select	NP_000456.2:p.Ser555Arg
NM_001282543.2:c.1608C>A	NP_001269472.1:p.Ser536Arg
NM_001282545.2:c.312C>A	NP_001269474.1:p.Ser104Arg
NM_001282548.2:c.255C>A	NP_001269477.1:p.Ser85Arg
NM_001282549.2:c.365-21951C>A	NP_001269478.1:n.365-21951C>A
NR_104212.2:n.1630C>A
NR_104215.2:n.1573C>A
NR_104216.2:n.829C>A