Canonical Allele Identifier: CA350454778

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215617220A>C (hg19) ; chr2:g.214752496A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752496A>C , CM000664.2:g.214752496A>C	GRCh38
NC_000002.11:g.215617220A>C , CM000664.1:g.215617220A>C	GRCh37
NC_000002.10:g.215325465A>C	NCBI36
NG_012047.2:g.62209T>G
NG_012047.3:g.62216T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1628T>G MANE Select	ENSP00000260947.4:p.Leu543Trp
ENST00000421162.2:c.275T>G	ENSP00000392245.2:p.Leu92Trp
ENST00000613192.2:c.159-21988T>G	ENSP00000483275.2:n.159-21988T>G
ENST00000613374.5:c.218T>G	ENSP00000484464.1:p.Leu73Trp
ENST00000613706.5:c.1220T>G	ENSP00000484976.2:p.Leu407Trp
ENST00000617164.5:c.1571T>G	ENSP00000480470.1:p.Leu524Trp
ENST00000619009.5:c.365-21988T>G	ENSP00000482293.1:n.365-21988T>G
ENST00000650978.1:c.3003T>G
ENST00000260947.8:c.1628T>G	ENSP00000260947.4:p.Leu543Trp
ENST00000421162.1:c.275T>G	ENSP00000392245.1:p.Leu92Trp
ENST00000455743.5:c.*1248T>G	ENSP00000412186.1:n.*1248T>G
ENST00000613192.1:c.74-21988T>G	ENSP00000483275.1:n.74-21988T>G
ENST00000613374.4:c.218T>G	ENSP00000484464.1:p.Leu73Trp
ENST00000613706.4:c.275T>G	ENSP00000484976.1:p.Leu92Trp
ENST00000617164.4:c.1571T>G	ENSP00000480470.1:p.Leu524Trp
ENST00000619009.4:c.365-21988T>G	ENSP00000482293.1:n.365-21988T>G
ENST00000620057.4:c.*294T>G	ENSP00000481988.1:n.*294T>G
NM_000465.3:c.1628T>G	NP_000456.2:p.Leu543Trp
NM_001282543.1:c.1571T>G	NP_001269472.1:p.Leu524Trp
NM_001282545.1:c.275T>G	NP_001269474.1:p.Leu92Trp
NM_001282548.1:c.218T>G	NP_001269477.1:p.Leu73Trp
NM_001282549.1:c.365-21988T>G	NP_001269478.1:n.365-21988T>G
NR_104212.1:n.1621T>G
NR_104215.1:n.1564T>G
NR_104216.1:n.820T>G
XM_011511567.1:c.1574T>G	XP_011509869.1:p.Leu525Trp
XM_011511568.1:c.1628T>G	XP_011509870.1:p.Leu543Trp
XM_017004613.1:c.1727T>G	XP_016860102.1:p.Leu576Trp
XM_017004614.1:c.1727T>G	XP_016860103.1:p.Leu576Trp
XR_002959322.1:n.1818T>G
NM_000465.4:c.1628T>G MANE Select	NP_000456.2:p.Leu543Trp
NM_001282543.2:c.1571T>G	NP_001269472.1:p.Leu524Trp
NM_001282545.2:c.275T>G	NP_001269474.1:p.Leu92Trp
NM_001282548.2:c.218T>G	NP_001269477.1:p.Leu73Trp
NM_001282549.2:c.365-21988T>G	NP_001269478.1:n.365-21988T>G
NR_104212.2:n.1593T>G
NR_104215.2:n.1536T>G
NR_104216.2:n.792T>G