Canonical Allele Identifier: CA350452256

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2907832
• ClinVar RCV Id: RCV003607076
• MyVariant Identifiers: chr2:g.215609856G>C (hg19) ; chr2:g.214745132G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745132G>C , CM000664.2:g.214745132G>C	GRCh38
NC_000002.11:g.215609856G>C , CM000664.1:g.215609856G>C	GRCh37
NC_000002.10:g.215318101G>C	NCBI36
NG_012047.2:g.69573C>G
NG_012047.3:g.69580C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1838C>G MANE Select	ENSP00000260947.4:p.Ala613Gly
ENST00000421162.2:c.485C>G	ENSP00000392245.2:p.Ala162Gly
ENST00000613192.2:c.159-14624C>G	ENSP00000483275.2:n.159-14624C>G
ENST00000613374.5:c.428C>G	ENSP00000484464.1:p.Ala143Gly
ENST00000613706.5:c.1430C>G	ENSP00000484976.2:p.Ala477Gly
ENST00000617164.5:c.1781C>G	ENSP00000480470.1:p.Ala594Gly
ENST00000619009.5:c.365-14624C>G	ENSP00000482293.1:n.365-14624C>G
ENST00000650978.1:c.3213C>G
ENST00000260947.8:c.1838C>G	ENSP00000260947.4:p.Ala613Gly
ENST00000421162.1:c.485C>G	ENSP00000392245.1:p.Ala162Gly
ENST00000455743.5:c.*1458C>G	ENSP00000412186.1:n.*1458C>G
ENST00000613192.1:c.74-14624C>G	ENSP00000483275.1:n.74-14624C>G
ENST00000613374.4:c.428C>G	ENSP00000484464.1:p.Ala143Gly
ENST00000613706.4:c.485C>G	ENSP00000484976.1:p.Ala162Gly
ENST00000617164.4:c.1781C>G	ENSP00000480470.1:p.Ala594Gly
ENST00000619009.4:c.365-14624C>G	ENSP00000482293.1:n.365-14624C>G
ENST00000620057.4:c.*504C>G	ENSP00000481988.1:n.*504C>G
NM_000465.3:c.1838C>G	NP_000456.2:p.Ala613Gly
NM_001282543.1:c.1781C>G	NP_001269472.1:p.Ala594Gly
NM_001282545.1:c.485C>G	NP_001269474.1:p.Ala162Gly
NM_001282548.1:c.428C>G	NP_001269477.1:p.Ala143Gly
NM_001282549.1:c.365-14624C>G	NP_001269478.1:n.365-14624C>G
NR_104212.1:n.1831C>G
NR_104215.1:n.1774C>G
NR_104216.1:n.1030C>G
XM_011511567.1:c.1784C>G	XP_011509869.1:p.Ala595Gly
XM_011511568.1:c.1838C>G	XP_011509870.1:p.Ala613Gly
XM_017004613.1:c.1937C>G	XP_016860102.1:p.Ala646Gly
XM_017004614.1:c.1937C>G	XP_016860103.1:p.Ala646Gly
XR_002959322.1:n.2028C>G
NM_000465.4:c.1838C>G MANE Select	NP_000456.2:p.Ala613Gly
NM_001282543.2:c.1781C>G	NP_001269472.1:p.Ala594Gly
NM_001282545.2:c.485C>G	NP_001269474.1:p.Ala162Gly
NM_001282548.2:c.428C>G	NP_001269477.1:p.Ala143Gly
NM_001282549.2:c.365-14624C>G	NP_001269478.1:n.365-14624C>G
NR_104212.2:n.1803C>G
NR_104215.2:n.1746C>G
NR_104216.2:n.1002C>G