Canonical Allele Identifier: CA350452474

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1801522
• ClinVar RCV Id: RCV003164555
• dbSNP Id: rs876659894
• MyVariant Identifiers: chr2:g.215610445C>A (hg19) ; chr2:g.214745721C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745721C>A , CM000664.2:g.214745721C>A	GRCh38
NC_000002.11:g.215610445C>A , CM000664.1:g.215610445C>A	GRCh37
NC_000002.10:g.215318690C>A	NCBI36
NG_012047.2:g.68984G>T
NG_012047.3:g.68991G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1810+1G>T MANE Select	ENSP00000260947.4:n.1810+1G>T
ENST00000421162.2:c.457+1G>T	ENSP00000392245.2:n.457+1G>T
ENST00000613192.2:c.159-15213G>T	ENSP00000483275.2:n.159-15213G>T
ENST00000613374.5:c.400+1G>T	ENSP00000484464.1:n.400+1G>T
ENST00000613706.5:c.1402+1G>T	ENSP00000484976.2:n.1402+1G>T
ENST00000617164.5:c.1753+1G>T	ENSP00000480470.1:n.1753+1G>T
ENST00000619009.5:c.365-15213G>T	ENSP00000482293.1:n.365-15213G>T
ENST00000650978.1:c.3185+1G>T
ENST00000260947.8:c.1810+1G>T	ENSP00000260947.4:n.1810+1G>T
ENST00000421162.1:c.457+1G>T	ENSP00000392245.1:n.457+1G>T
ENST00000455743.5:c.*1430+1G>T	ENSP00000412186.1:n.*1430+1G>T
ENST00000465841.1:n.166G>T
ENST00000613192.1:c.74-15213G>T	ENSP00000483275.1:n.74-15213G>T
ENST00000613374.4:c.400+1G>T	ENSP00000484464.1:n.400+1G>T
ENST00000613706.4:c.457+1G>T	ENSP00000484976.1:n.457+1G>T
ENST00000617164.4:c.1753+1G>T	ENSP00000480470.1:n.1753+1G>T
ENST00000619009.4:c.365-15213G>T	ENSP00000482293.1:n.365-15213G>T
ENST00000620057.4:c.*476+1G>T	ENSP00000481988.1:n.*476+1G>T
NM_000465.3:c.1810+1G>T	NP_000456.2:n.1810+1G>T
NM_001282543.1:c.1753+1G>T	NP_001269472.1:n.1753+1G>T
NM_001282545.1:c.457+1G>T	NP_001269474.1:n.457+1G>T
NM_001282548.1:c.400+1G>T	NP_001269477.1:n.400+1G>T
NM_001282549.1:c.365-15213G>T	NP_001269478.1:n.365-15213G>T
NR_104212.1:n.1803+1G>T
NR_104215.1:n.1746+1G>T
NR_104216.1:n.1002+1G>T
XM_011511567.1:c.1756+1G>T	XP_011509869.1:n.1756+1G>T
XM_011511568.1:c.1810+1G>T	XP_011509870.1:n.1810+1G>T
XM_017004613.1:c.1909+1G>T	XP_016860102.1:n.1909+1G>T
XM_017004614.1:c.1909+1G>T	XP_016860103.1:n.1909+1G>T
XR_002959322.1:n.2000+1G>T
NM_000465.4:c.1810+1G>T MANE Select	NP_000456.2:n.1810+1G>T
NM_001282543.2:c.1753+1G>T	NP_001269472.1:n.1753+1G>T
NM_001282545.2:c.457+1G>T	NP_001269474.1:n.457+1G>T
NM_001282548.2:c.400+1G>T	NP_001269477.1:n.400+1G>T
NM_001282549.2:c.365-15213G>T	NP_001269478.1:n.365-15213G>T
NR_104212.2:n.1775+1G>T
NR_104215.2:n.1718+1G>T
NR_104216.2:n.974+1G>T