Canonical Allele Identifier: CA350453307

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215610568C>G (hg19) ; chr2:g.214745844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745844C>G , CM000664.2:g.214745844C>G	GRCh38
NC_000002.11:g.215610568C>G , CM000664.1:g.215610568C>G	GRCh37
NC_000002.10:g.215318813C>G	NCBI36
NG_012047.2:g.68861G>C
NG_012047.3:g.68868G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1688G>C MANE Select	ENSP00000260947.4:p.Gly563Ala
ENST00000421162.2:c.335G>C	ENSP00000392245.2:p.Gly112Ala
ENST00000613192.2:c.159-15336G>C	ENSP00000483275.2:n.159-15336G>C
ENST00000613374.5:c.278G>C	ENSP00000484464.1:p.Gly93Ala
ENST00000613706.5:c.1280G>C	ENSP00000484976.2:p.Gly427Ala
ENST00000617164.5:c.1631G>C	ENSP00000480470.1:p.Gly544Ala
ENST00000619009.5:c.365-15336G>C	ENSP00000482293.1:n.365-15336G>C
ENST00000650978.1:c.3063G>C
ENST00000260947.8:c.1688G>C	ENSP00000260947.4:p.Gly563Ala
ENST00000421162.1:c.335G>C	ENSP00000392245.1:p.Gly112Ala
ENST00000455743.5:c.*1308G>C	ENSP00000412186.1:n.*1308G>C
ENST00000465841.1:n.43G>C
ENST00000613192.1:c.74-15336G>C	ENSP00000483275.1:n.74-15336G>C
ENST00000613374.4:c.278G>C	ENSP00000484464.1:p.Gly93Ala
ENST00000613706.4:c.335G>C	ENSP00000484976.1:p.Gly112Ala
ENST00000617164.4:c.1631G>C	ENSP00000480470.1:p.Gly544Ala
ENST00000619009.4:c.365-15336G>C	ENSP00000482293.1:n.365-15336G>C
ENST00000620057.4:c.*354G>C	ENSP00000481988.1:n.*354G>C
NM_000465.3:c.1688G>C	NP_000456.2:p.Gly563Ala
NM_001282543.1:c.1631G>C	NP_001269472.1:p.Gly544Ala
NM_001282545.1:c.335G>C	NP_001269474.1:p.Gly112Ala
NM_001282548.1:c.278G>C	NP_001269477.1:p.Gly93Ala
NM_001282549.1:c.365-15336G>C	NP_001269478.1:n.365-15336G>C
NR_104212.1:n.1681G>C
NR_104215.1:n.1624G>C
NR_104216.1:n.880G>C
XM_011511567.1:c.1634G>C	XP_011509869.1:p.Gly545Ala
XM_011511568.1:c.1688G>C	XP_011509870.1:p.Gly563Ala
XM_017004613.1:c.1787G>C	XP_016860102.1:p.Gly596Ala
XM_017004614.1:c.1787G>C	XP_016860103.1:p.Gly596Ala
XR_002959322.1:n.1878G>C
NM_000465.4:c.1688G>C MANE Select	NP_000456.2:p.Gly563Ala
NM_001282543.2:c.1631G>C	NP_001269472.1:p.Gly544Ala
NM_001282545.2:c.335G>C	NP_001269474.1:p.Gly112Ala
NM_001282548.2:c.278G>C	NP_001269477.1:p.Gly93Ala
NM_001282549.2:c.365-15336G>C	NP_001269478.1:n.365-15336G>C
NR_104212.2:n.1653G>C
NR_104215.2:n.1596G>C
NR_104216.2:n.852G>C