Canonical Allele Identifier: CA10584173

Gene: BARD1

Linked Data

• ClinVar Variation Id: 245801
• ClinVar RCV Id: RCV000236120 ; RCV001854853
• dbSNP Id: rs879253952
• MyVariant Identifiers: chr2:g.215609884C>T (hg19) ; chr2:g.214745160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745160C>T , CM000664.2:g.214745160C>T	GRCh38
NC_000002.11:g.215609884C>T , CM000664.1:g.215609884C>T	GRCh37
NC_000002.10:g.215318129C>T	NCBI36
NG_012047.2:g.69545G>A
NG_012047.3:g.69552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1811-1G>A MANE Select	ENSP00000260947.4:n.1811-1G>A
ENST00000421162.2:c.458-1G>A	ENSP00000392245.2:n.458-1G>A
ENST00000613192.2:c.159-14652G>A	ENSP00000483275.2:n.159-14652G>A
ENST00000613374.5:c.401-1G>A	ENSP00000484464.1:n.401-1G>A
ENST00000613706.5:c.1403-1G>A	ENSP00000484976.2:n.1403-1G>A
ENST00000617164.5:c.1754-1G>A	ENSP00000480470.1:n.1754-1G>A
ENST00000619009.5:c.365-14652G>A	ENSP00000482293.1:n.365-14652G>A
ENST00000650978.1:c.3186-1G>A
ENST00000260947.8:c.1811-1G>A	ENSP00000260947.4:n.1811-1G>A
ENST00000421162.1:c.458-1G>A	ENSP00000392245.1:n.458-1G>A
ENST00000455743.5:c.*1431-1G>A	ENSP00000412186.1:n.*1431-1G>A
ENST00000613192.1:c.74-14652G>A	ENSP00000483275.1:n.74-14652G>A
ENST00000613374.4:c.401-1G>A	ENSP00000484464.1:n.401-1G>A
ENST00000613706.4:c.458-1G>A	ENSP00000484976.1:n.458-1G>A
ENST00000617164.4:c.1754-1G>A	ENSP00000480470.1:n.1754-1G>A
ENST00000619009.4:c.365-14652G>A	ENSP00000482293.1:n.365-14652G>A
ENST00000620057.4:c.*477-1G>A	ENSP00000481988.1:n.*477-1G>A
NM_000465.3:c.1811-1G>A	NP_000456.2:n.1811-1G>A
NM_001282543.1:c.1754-1G>A	NP_001269472.1:n.1754-1G>A
NM_001282545.1:c.458-1G>A	NP_001269474.1:n.458-1G>A
NM_001282548.1:c.401-1G>A	NP_001269477.1:n.401-1G>A
NM_001282549.1:c.365-14652G>A	NP_001269478.1:n.365-14652G>A
NR_104212.1:n.1804-1G>A
NR_104215.1:n.1747-1G>A
NR_104216.1:n.1003-1G>A
XM_011511567.1:c.1757-1G>A	XP_011509869.1:n.1757-1G>A
XM_011511568.1:c.1811-1G>A	XP_011509870.1:n.1811-1G>A
XM_017004613.1:c.1910-1G>A	XP_016860102.1:n.1910-1G>A
XM_017004614.1:c.1910-1G>A	XP_016860103.1:n.1910-1G>A
XR_002959322.1:n.2001-1G>A
NM_000465.4:c.1811-1G>A MANE Select	NP_000456.2:n.1811-1G>A
NM_001282543.2:c.1754-1G>A	NP_001269472.1:n.1754-1G>A
NM_001282545.2:c.458-1G>A	NP_001269474.1:n.458-1G>A
NM_001282548.2:c.401-1G>A	NP_001269477.1:n.401-1G>A
NM_001282549.2:c.365-14652G>A	NP_001269478.1:n.365-14652G>A
NR_104212.2:n.1776-1G>A
NR_104215.2:n.1719-1G>A
NR_104216.2:n.975-1G>A