Canonical Allele Identifier: CA350452255

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1500039
• ClinVar RCV Id: RCV002013228
• dbSNP Id: rs146629794
• MyVariant Identifiers: chr2:g.215609856G>A (hg19) ; chr2:g.214745132G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1838C>T MANE Select	ENSP00000260947.4:p.Ala613Val
ENST00000421162.2:c.485C>T	ENSP00000392245.2:p.Ala162Val
ENST00000613192.2:c.159-14624C>T	ENSP00000483275.2:n.159-14624C>T
ENST00000613374.5:c.428C>T	ENSP00000484464.1:p.Ala143Val
ENST00000613706.5:c.1430C>T	ENSP00000484976.2:p.Ala477Val
ENST00000617164.5:c.1781C>T	ENSP00000480470.1:p.Ala594Val
ENST00000619009.5:c.365-14624C>T	ENSP00000482293.1:n.365-14624C>T
ENST00000650978.1:c.3213C>T
ENST00000260947.8:c.1838C>T	ENSP00000260947.4:p.Ala613Val
ENST00000421162.1:c.485C>T	ENSP00000392245.1:p.Ala162Val
ENST00000455743.5:c.*1458C>T	ENSP00000412186.1:n.*1458C>T
ENST00000613192.1:c.74-14624C>T	ENSP00000483275.1:n.74-14624C>T
ENST00000613374.4:c.428C>T	ENSP00000484464.1:p.Ala143Val
ENST00000613706.4:c.485C>T	ENSP00000484976.1:p.Ala162Val
ENST00000617164.4:c.1781C>T	ENSP00000480470.1:p.Ala594Val
ENST00000619009.4:c.365-14624C>T	ENSP00000482293.1:n.365-14624C>T
ENST00000620057.4:c.*504C>T	ENSP00000481988.1:n.*504C>T
NM_000465.3:c.1838C>T	NP_000456.2:p.Ala613Val
NM_001282543.1:c.1781C>T	NP_001269472.1:p.Ala594Val
NM_001282545.1:c.485C>T	NP_001269474.1:p.Ala162Val
NM_001282548.1:c.428C>T	NP_001269477.1:p.Ala143Val
NM_001282549.1:c.365-14624C>T	NP_001269478.1:n.365-14624C>T
NR_104212.1:n.1831C>T
NR_104215.1:n.1774C>T
NR_104216.1:n.1030C>T
XM_011511567.1:c.1784C>T	XP_011509869.1:p.Ala595Val
XM_011511568.1:c.1838C>T	XP_011509870.1:p.Ala613Val
XM_017004613.1:c.1937C>T	XP_016860102.1:p.Ala646Val
XM_017004614.1:c.1937C>T	XP_016860103.1:p.Ala646Val
XR_002959322.1:n.2028C>T
NM_000465.4:c.1838C>T MANE Select	NP_000456.2:p.Ala613Val
NM_001282543.2:c.1781C>T	NP_001269472.1:p.Ala594Val
NM_001282545.2:c.485C>T	NP_001269474.1:p.Ala162Val
NM_001282548.2:c.428C>T	NP_001269477.1:p.Ala143Val
NM_001282549.2:c.365-14624C>T	NP_001269478.1:n.365-14624C>T
NR_104212.2:n.1803C>T
NR_104215.2:n.1746C>T
NR_104216.2:n.1002C>T