Canonical Allele Identifier: CA350452259

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1781066
• ClinVar RCV Id: RCV002412753
• MyVariant Identifiers: chr2:g.215609857C>A (hg19) ; chr2:g.214745133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745133C>A , CM000664.2:g.214745133C>A	GRCh38
NC_000002.11:g.215609857C>A , CM000664.1:g.215609857C>A	GRCh37
NC_000002.10:g.215318102C>A	NCBI36
NG_012047.2:g.69572G>T
NG_012047.3:g.69579G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1837G>T MANE Select	ENSP00000260947.4:p.Ala613Ser
ENST00000421162.2:c.484G>T	ENSP00000392245.2:p.Ala162Ser
ENST00000613192.2:c.159-14625G>T	ENSP00000483275.2:n.159-14625G>T
ENST00000613374.5:c.427G>T	ENSP00000484464.1:p.Ala143Ser
ENST00000613706.5:c.1429G>T	ENSP00000484976.2:p.Ala477Ser
ENST00000617164.5:c.1780G>T	ENSP00000480470.1:p.Ala594Ser
ENST00000619009.5:c.365-14625G>T	ENSP00000482293.1:n.365-14625G>T
ENST00000650978.1:c.3212G>T
ENST00000260947.8:c.1837G>T	ENSP00000260947.4:p.Ala613Ser
ENST00000421162.1:c.484G>T	ENSP00000392245.1:p.Ala162Ser
ENST00000455743.5:c.*1457G>T	ENSP00000412186.1:n.*1457G>T
ENST00000613192.1:c.74-14625G>T	ENSP00000483275.1:n.74-14625G>T
ENST00000613374.4:c.427G>T	ENSP00000484464.1:p.Ala143Ser
ENST00000613706.4:c.484G>T	ENSP00000484976.1:p.Ala162Ser
ENST00000617164.4:c.1780G>T	ENSP00000480470.1:p.Ala594Ser
ENST00000619009.4:c.365-14625G>T	ENSP00000482293.1:n.365-14625G>T
ENST00000620057.4:c.*503G>T	ENSP00000481988.1:n.*503G>T
NM_000465.3:c.1837G>T	NP_000456.2:p.Ala613Ser
NM_001282543.1:c.1780G>T	NP_001269472.1:p.Ala594Ser
NM_001282545.1:c.484G>T	NP_001269474.1:p.Ala162Ser
NM_001282548.1:c.427G>T	NP_001269477.1:p.Ala143Ser
NM_001282549.1:c.365-14625G>T	NP_001269478.1:n.365-14625G>T
NR_104212.1:n.1830G>T
NR_104215.1:n.1773G>T
NR_104216.1:n.1029G>T
XM_011511567.1:c.1783G>T	XP_011509869.1:p.Ala595Ser
XM_011511568.1:c.1837G>T	XP_011509870.1:p.Ala613Ser
XM_017004613.1:c.1936G>T	XP_016860102.1:p.Ala646Ser
XM_017004614.1:c.1936G>T	XP_016860103.1:p.Ala646Ser
XR_002959322.1:n.2027G>T
NM_000465.4:c.1837G>T MANE Select	NP_000456.2:p.Ala613Ser
NM_001282543.2:c.1780G>T	NP_001269472.1:p.Ala594Ser
NM_001282545.2:c.484G>T	NP_001269474.1:p.Ala162Ser
NM_001282548.2:c.427G>T	NP_001269477.1:p.Ala143Ser
NM_001282549.2:c.365-14625G>T	NP_001269478.1:n.365-14625G>T
NR_104212.2:n.1802G>T
NR_104215.2:n.1745G>T
NR_104216.2:n.1001G>T