Canonical Allele Identifier: CA350454497

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215617172A>C (hg19) ; chr2:g.214752448A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752448A>C , CM000664.2:g.214752448A>C	GRCh38
NC_000002.11:g.215617172A>C , CM000664.1:g.215617172A>C	GRCh37
NC_000002.10:g.215325417A>C	NCBI36
NG_012047.2:g.62257T>G
NG_012047.3:g.62264T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1676T>G MANE Select	ENSP00000260947.4:p.Val559Gly
ENST00000421162.2:c.323T>G	ENSP00000392245.2:p.Val108Gly
ENST00000613192.2:c.159-21940T>G	ENSP00000483275.2:n.159-21940T>G
ENST00000613374.5:c.266T>G	ENSP00000484464.1:p.Val89Gly
ENST00000613706.5:c.1268T>G	ENSP00000484976.2:p.Val423Gly
ENST00000617164.5:c.1619T>G	ENSP00000480470.1:p.Val540Gly
ENST00000619009.5:c.365-21940T>G	ENSP00000482293.1:n.365-21940T>G
ENST00000650978.1:c.3051T>G
ENST00000260947.8:c.1676T>G	ENSP00000260947.4:p.Val559Gly
ENST00000421162.1:c.323T>G	ENSP00000392245.1:p.Val108Gly
ENST00000455743.5:c.*1296T>G	ENSP00000412186.1:n.*1296T>G
ENST00000465841.1:n.31T>G
ENST00000613192.1:c.74-21940T>G	ENSP00000483275.1:n.74-21940T>G
ENST00000613374.4:c.266T>G	ENSP00000484464.1:p.Val89Gly
ENST00000613706.4:c.323T>G	ENSP00000484976.1:p.Val108Gly
ENST00000617164.4:c.1619T>G	ENSP00000480470.1:p.Val540Gly
ENST00000619009.4:c.365-21940T>G	ENSP00000482293.1:n.365-21940T>G
ENST00000620057.4:c.*342T>G	ENSP00000481988.1:n.*342T>G
NM_000465.3:c.1676T>G	NP_000456.2:p.Val559Gly
NM_001282543.1:c.1619T>G	NP_001269472.1:p.Val540Gly
NM_001282545.1:c.323T>G	NP_001269474.1:p.Val108Gly
NM_001282548.1:c.266T>G	NP_001269477.1:p.Val89Gly
NM_001282549.1:c.365-21940T>G	NP_001269478.1:n.365-21940T>G
NR_104212.1:n.1669T>G
NR_104215.1:n.1612T>G
NR_104216.1:n.868T>G
XM_011511567.1:c.1622T>G	XP_011509869.1:p.Val541Gly
XM_011511568.1:c.1676T>G	XP_011509870.1:p.Val559Gly
XM_017004613.1:c.1775T>G	XP_016860102.1:p.Val592Gly
XM_017004614.1:c.1775T>G	XP_016860103.1:p.Val592Gly
XR_002959322.1:n.1866T>G
NM_000465.4:c.1676T>G MANE Select	NP_000456.2:p.Val559Gly
NM_001282543.2:c.1619T>G	NP_001269472.1:p.Val540Gly
NM_001282545.2:c.323T>G	NP_001269474.1:p.Val108Gly
NM_001282548.2:c.266T>G	NP_001269477.1:p.Val89Gly
NM_001282549.2:c.365-21940T>G	NP_001269478.1:n.365-21940T>G
NR_104212.2:n.1641T>G
NR_104215.2:n.1584T>G
NR_104216.2:n.840T>G