Canonical Allele Identifier: CA350453308

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215610569C>A (hg19) ; chr2:g.214745845C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745845C>A , CM000664.2:g.214745845C>A	GRCh38
NC_000002.11:g.215610569C>A , CM000664.1:g.215610569C>A	GRCh37
NC_000002.10:g.215318814C>A	NCBI36
NG_012047.2:g.68860G>T
NG_012047.3:g.68867G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1687G>T MANE Select	ENSP00000260947.4:p.Gly563Trp
ENST00000421162.2:c.334G>T	ENSP00000392245.2:p.Gly112Trp
ENST00000613192.2:c.159-15337G>T	ENSP00000483275.2:n.159-15337G>T
ENST00000613374.5:c.277G>T	ENSP00000484464.1:p.Gly93Trp
ENST00000613706.5:c.1279G>T	ENSP00000484976.2:p.Gly427Trp
ENST00000617164.5:c.1630G>T	ENSP00000480470.1:p.Gly544Trp
ENST00000619009.5:c.365-15337G>T	ENSP00000482293.1:n.365-15337G>T
ENST00000650978.1:c.3062G>T
ENST00000260947.8:c.1687G>T	ENSP00000260947.4:p.Gly563Trp
ENST00000421162.1:c.334G>T	ENSP00000392245.1:p.Gly112Trp
ENST00000455743.5:c.*1307G>T	ENSP00000412186.1:n.*1307G>T
ENST00000465841.1:n.42G>T
ENST00000613192.1:c.74-15337G>T	ENSP00000483275.1:n.74-15337G>T
ENST00000613374.4:c.277G>T	ENSP00000484464.1:p.Gly93Trp
ENST00000613706.4:c.334G>T	ENSP00000484976.1:p.Gly112Trp
ENST00000617164.4:c.1630G>T	ENSP00000480470.1:p.Gly544Trp
ENST00000619009.4:c.365-15337G>T	ENSP00000482293.1:n.365-15337G>T
ENST00000620057.4:c.*353G>T	ENSP00000481988.1:n.*353G>T
NM_000465.3:c.1687G>T	NP_000456.2:p.Gly563Trp
NM_001282543.1:c.1630G>T	NP_001269472.1:p.Gly544Trp
NM_001282545.1:c.334G>T	NP_001269474.1:p.Gly112Trp
NM_001282548.1:c.277G>T	NP_001269477.1:p.Gly93Trp
NM_001282549.1:c.365-15337G>T	NP_001269478.1:n.365-15337G>T
NR_104212.1:n.1680G>T
NR_104215.1:n.1623G>T
NR_104216.1:n.879G>T
XM_011511567.1:c.1633G>T	XP_011509869.1:p.Gly545Trp
XM_011511568.1:c.1687G>T	XP_011509870.1:p.Gly563Trp
XM_017004613.1:c.1786G>T	XP_016860102.1:p.Gly596Trp
XM_017004614.1:c.1786G>T	XP_016860103.1:p.Gly596Trp
XR_002959322.1:n.1877G>T
NM_000465.4:c.1687G>T MANE Select	NP_000456.2:p.Gly563Trp
NM_001282543.2:c.1630G>T	NP_001269472.1:p.Gly544Trp
NM_001282545.2:c.334G>T	NP_001269474.1:p.Gly112Trp
NM_001282548.2:c.277G>T	NP_001269477.1:p.Gly93Trp
NM_001282549.2:c.365-15337G>T	NP_001269478.1:n.365-15337G>T
NR_104212.2:n.1652G>T
NR_104215.2:n.1595G>T
NR_104216.2:n.851G>T