Canonical Allele Identifier: CA287512

Gene: BARD1

Linked Data

• ClinVar Variation Id: 127714
• ClinVar RCV Id: RCV000115610 ; RCV000212126 ; RCV000808881
• dbSNP Id: rs587780015
• ExAC: 2:215645309 G / C
• gnomAD v2: 2-215645309-G-C
• gnomAD v4: 2-214780585-G-C
• MyVariant Identifiers: chr2:g.215645309G>C (hg19) ; chr2:g.214780585G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780585G>C , CM000664.2:g.214780585G>C	GRCh38
NC_000002.11:g.215645309G>C , CM000664.1:g.215645309G>C	GRCh37
NC_000002.10:g.215353554G>C	NCBI36
NG_012047.2:g.34120C>G
NG_012047.3:g.34127C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1289C>G MANE Select	ENSP00000260947.4:p.Thr430Ser
ENST00000421162.2:c.215+16476C>G	ENSP00000392245.2:n.215+16476C>G
ENST00000613192.2:c.158+28827C>G	ENSP00000483275.2:n.158+28827C>G
ENST00000613374.5:c.159-28030C>G	ENSP00000484464.1:n.159-28030C>G
ENST00000613706.5:c.906+383C>G	ENSP00000484976.2:n.906+383C>G
ENST00000617164.5:c.1232C>G	ENSP00000480470.1:p.Thr411Ser
ENST00000619009.5:c.364+11712C>G	ENSP00000482293.1:n.364+11712C>G
ENST00000650978.1:c.1131C>G
ENST00000260947.8:c.1289C>G	ENSP00000260947.4:p.Thr430Ser
ENST00000421162.1:c.215+16476C>G	ENSP00000392245.1:n.215+16476C>G
ENST00000455743.5:c.*909C>G	ENSP00000412186.1:n.*909C>G
ENST00000613192.1:c.73+28827C>G	ENSP00000483275.1:n.73+28827C>G
ENST00000613374.4:c.159-28030C>G	ENSP00000484464.1:n.159-28030C>G
ENST00000613706.4:c.215+16476C>G	ENSP00000484976.1:n.215+16476C>G
ENST00000617164.4:c.1232C>G	ENSP00000480470.1:p.Thr411Ser
ENST00000619009.4:c.364+11712C>G	ENSP00000482293.1:n.364+11712C>G
ENST00000620057.4:c.365-11273C>G	ENSP00000481988.1:n.365-11273C>G
NM_000465.3:c.1289C>G	NP_000456.2:p.Thr430Ser
NM_001282543.1:c.1232C>G	NP_001269472.1:p.Thr411Ser
NM_001282545.1:c.215+16476C>G	NP_001269474.1:n.215+16476C>G
NM_001282548.1:c.159-28030C>G	NP_001269477.1:n.159-28030C>G
NM_001282549.1:c.364+11712C>G	NP_001269478.1:n.364+11712C>G
NR_104212.1:n.1282C>G
NR_104215.1:n.1225C>G
NR_104216.1:n.507-11273C>G
XM_011511567.1:c.1235C>G	XP_011509869.1:p.Thr412Ser
XM_011511568.1:c.1289C>G	XP_011509870.1:p.Thr430Ser
XM_017004613.1:c.1388C>G	XP_016860102.1:p.Thr463Ser
XM_017004614.1:c.1388C>G	XP_016860103.1:p.Thr463Ser
XR_002959322.1:n.1479C>G
NM_000465.4:c.1289C>G MANE Select	NP_000456.2:p.Thr430Ser
NM_001282543.2:c.1232C>G	NP_001269472.1:p.Thr411Ser
NM_001282545.2:c.215+16476C>G	NP_001269474.1:n.215+16476C>G
NM_001282548.2:c.159-28030C>G	NP_001269477.1:n.159-28030C>G
NM_001282549.2:c.364+11712C>G	NP_001269478.1:n.364+11712C>G
NR_104212.2:n.1254C>G
NR_104215.2:n.1197C>G
NR_104216.2:n.479-11273C>G