Canonical Allele Identifier: CA64802154

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1249171
• ClinVar RCV Id: RCV001656692
• dbSNP Id: rs149290446
• gnomAD v2: 2-215609565-C-A
• gnomAD v3: 2-214744841-C-A
• gnomAD v4: 2-214744841-C-A
• MyVariant Identifiers: chr2:g.215609565C>A (hg19) ; chr2:g.214744841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214744841C>A , CM000664.2:g.214744841C>A	GRCh38
NC_000002.11:g.215609565C>A , CM000664.1:g.215609565C>A	GRCh37
NC_000002.10:g.215317810C>A	NCBI36
NG_012047.2:g.69864G>T
NG_012047.3:g.69871G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1903+226G>T MANE Select	ENSP00000260947.4:n.1903+226G>T
ENST00000421162.2:c.550+226G>T	ENSP00000392245.2:n.550+226G>T
ENST00000613192.2:c.159-14333G>T	ENSP00000483275.2:n.159-14333G>T
ENST00000613374.5:c.493+226G>T	ENSP00000484464.1:n.493+226G>T
ENST00000613706.5:c.1495+226G>T	ENSP00000484976.2:n.1495+226G>T
ENST00000617164.5:c.1846+226G>T	ENSP00000480470.1:n.1846+226G>T
ENST00000619009.5:c.365-14333G>T	ENSP00000482293.1:n.365-14333G>T
ENST00000650978.1:c.3278+226G>T
ENST00000260947.8:c.1903+226G>T	ENSP00000260947.4:n.1903+226G>T
ENST00000421162.1:c.550+226G>T	ENSP00000392245.1:n.550+226G>T
ENST00000455743.5:c.*1523+226G>T	ENSP00000412186.1:n.*1523+226G>T
ENST00000613192.1:c.74-14333G>T	ENSP00000483275.1:n.74-14333G>T
ENST00000613374.4:c.493+226G>T	ENSP00000484464.1:n.493+226G>T
ENST00000613706.4:c.550+226G>T	ENSP00000484976.1:n.550+226G>T
ENST00000617164.4:c.1846+226G>T	ENSP00000480470.1:n.1846+226G>T
ENST00000619009.4:c.365-14333G>T	ENSP00000482293.1:n.365-14333G>T
ENST00000620057.4:c.*569+226G>T	ENSP00000481988.1:n.*569+226G>T
NM_000465.3:c.1903+226G>T	NP_000456.2:n.1903+226G>T
NM_001282543.1:c.1846+226G>T	NP_001269472.1:n.1846+226G>T
NM_001282545.1:c.550+226G>T	NP_001269474.1:n.550+226G>T
NM_001282548.1:c.493+226G>T	NP_001269477.1:n.493+226G>T
NM_001282549.1:c.365-14333G>T	NP_001269478.1:n.365-14333G>T
NR_104212.1:n.1896+226G>T
NR_104215.1:n.1839+226G>T
NR_104216.1:n.1095+226G>T
XM_011511567.1:c.1849+226G>T	XP_011509869.1:n.1849+226G>T
XM_011511568.1:c.1903+226G>T	XP_011509870.1:n.1903+226G>T
XM_017004613.1:c.2002+226G>T	XP_016860102.1:n.2002+226G>T
XM_017004614.1:c.2002+226G>T	XP_016860103.1:n.2002+226G>T
XR_002959322.1:n.2093+226G>T
NM_000465.4:c.1903+226G>T MANE Select	NP_000456.2:n.1903+226G>T
NM_001282543.2:c.1846+226G>T	NP_001269472.1:n.1846+226G>T
NM_001282545.2:c.550+226G>T	NP_001269474.1:n.550+226G>T
NM_001282548.2:c.493+226G>T	NP_001269477.1:n.493+226G>T
NM_001282549.2:c.365-14333G>T	NP_001269478.1:n.365-14333G>T
NR_104212.2:n.1868+226G>T
NR_104215.2:n.1811+226G>T
NR_104216.2:n.1067+226G>T