Canonical Allele Identifier: CA333244

Gene: BARD1

Linked Data

• ClinVar Variation Id: 142225
• ClinVar RCV Id: RCV000131224 ; RCV000205881 ; RCV000585398 ; RCV000855575 ; RCV001357448
• dbSNP Id: rs138593305
• ExAC: 2:215645939 A / G
• gnomAD v2: 2-215645939-A-G
• gnomAD v3: 2-214781215-A-G
• gnomAD v4: 2-214781215-A-G
• MyVariant Identifiers: chr2:g.215645939A>G (hg19) ; chr2:g.214781215A>G (hg38)
• PubMed: PMID:23056176 ; PMID:26315354 ; PMID:26580448

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781215A>G , CM000664.2:g.214781215A>G	GRCh38
NC_000002.11:g.215645939A>G , CM000664.1:g.215645939A>G	GRCh37
NC_000002.10:g.215354184A>G	NCBI36
NG_012047.2:g.33490T>C
NG_012047.3:g.33497T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.659T>C MANE Select	ENSP00000260947.4:p.Leu220Ser
ENST00000421162.2:c.215+15846T>C	ENSP00000392245.2:n.215+15846T>C
ENST00000613192.2:c.158+28197T>C	ENSP00000483275.2:n.158+28197T>C
ENST00000613374.5:c.158+28197T>C	ENSP00000484464.1:n.158+28197T>C
ENST00000613706.5:c.659T>C	ENSP00000484976.2:p.Leu220Ser
ENST00000617164.5:c.602T>C	ENSP00000480470.1:p.Leu201Ser
ENST00000619009.5:c.364+11082T>C	ENSP00000482293.1:n.364+11082T>C
ENST00000650978.1:c.501T>C
ENST00000260947.8:c.659T>C	ENSP00000260947.4:p.Leu220Ser
ENST00000421162.1:c.215+15846T>C	ENSP00000392245.1:n.215+15846T>C
ENST00000455743.5:c.*279T>C	ENSP00000412186.1:n.*279T>C
ENST00000471787.1:n.554T>C
ENST00000613192.1:c.73+28197T>C	ENSP00000483275.1:n.73+28197T>C
ENST00000613374.4:c.158+28197T>C	ENSP00000484464.1:n.158+28197T>C
ENST00000613706.4:c.215+15846T>C	ENSP00000484976.1:n.215+15846T>C
ENST00000617164.4:c.602T>C	ENSP00000480470.1:p.Leu201Ser
ENST00000619009.4:c.364+11082T>C	ENSP00000482293.1:n.364+11082T>C
ENST00000620057.4:c.364+11082T>C	ENSP00000481988.1:n.364+11082T>C
NM_000465.3:c.659T>C	NP_000456.2:p.Leu220Ser
NM_001282543.1:c.602T>C	NP_001269472.1:p.Leu201Ser
NM_001282545.1:c.215+15846T>C	NP_001269474.1:n.215+15846T>C
NM_001282548.1:c.158+28197T>C	NP_001269477.1:n.158+28197T>C
NM_001282549.1:c.364+11082T>C	NP_001269478.1:n.364+11082T>C
NR_104212.1:n.652T>C
NR_104215.1:n.595T>C
NR_104216.1:n.506+11082T>C
XM_011511567.1:c.605T>C	XP_011509869.1:p.Leu202Ser
XM_011511568.1:c.659T>C	XP_011509870.1:p.Leu220Ser
XM_017004613.1:c.758T>C	XP_016860102.1:p.Leu253Ser
XM_017004614.1:c.758T>C	XP_016860103.1:p.Leu253Ser
XR_002959322.1:n.849T>C
NM_000465.4:c.659T>C MANE Select	NP_000456.2:p.Leu220Ser
NM_001282543.2:c.602T>C	NP_001269472.1:p.Leu201Ser
NM_001282545.2:c.215+15846T>C	NP_001269474.1:n.215+15846T>C
NM_001282548.2:c.158+28197T>C	NP_001269477.1:n.158+28197T>C
NM_001282549.2:c.364+11082T>C	NP_001269478.1:n.364+11082T>C
NR_104212.2:n.624T>C
NR_104215.2:n.567T>C
NR_104216.2:n.478+11082T>C