Canonical Allele Identifier: CA2662973028

Gene: BARD1

Linked Data

• gnomAD v4: 2-214809671-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809671T>G , CM000664.2:g.214809671T>G	GRCh38
NC_000002.11:g.215674395T>G , CM000664.1:g.215674395T>G	GRCh37
NC_000002.10:g.215382640T>G	NCBI36
NG_012047.2:g.5034A>C
NG_012047.3:g.5041A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.-102A>C MANE Select	ENSP00000260947.4:n.-102A>C
ENST00000613192.2:c.-102A>C	ENSP00000483275.2:n.-102A>C
ENST00000613706.5:c.-102A>C	ENSP00000484976.2:n.-102A>C
ENST00000260947.8:c.-102A>C	ENSP00000260947.4:n.-102A>C
ENST00000421162.1:c.-102A>C	ENSP00000392245.1:n.-102A>C
ENST00000455743.5:c.-102A>C	ENSP00000412186.1:n.-102A>C
ENST00000613192.1:c.-187A>C	ENSP00000483275.1:n.-187A>C
ENST00000613374.4:c.-102A>C	ENSP00000484464.1:n.-102A>C
ENST00000613706.4:c.-102A>C	ENSP00000484976.1:n.-102A>C
ENST00000617164.4:c.-102A>C	ENSP00000480470.1:n.-102A>C
ENST00000619009.4:c.-102A>C	ENSP00000482293.1:n.-102A>C
NM_000465.3:c.-102A>C	NP_000456.2:n.-102A>C
NM_001282543.1:c.-102A>C	NP_001269472.1:n.-102A>C
NM_001282545.1:c.-102A>C	NP_001269474.1:n.-102A>C
NM_001282548.1:c.-102A>C	NP_001269477.1:n.-102A>C
NM_001282549.1:c.-102A>C	NP_001269478.1:n.-102A>C
NR_104212.1:n.41A>C
NR_104215.1:n.41A>C
NR_104216.1:n.41A>C
XM_011511568.1:c.-102A>C	XP_011509870.1:n.-102A>C
NM_000465.4:c.-102A>C MANE Select	NP_000456.2:n.-102A>C
NM_001282543.2:c.-102A>C	NP_001269472.1:n.-102A>C
NM_001282545.2:c.-102A>C	NP_001269474.1:n.-102A>C
NM_001282548.2:c.-102A>C	NP_001269477.1:n.-102A>C
NM_001282549.2:c.-102A>C	NP_001269478.1:n.-102A>C
NR_104212.2:n.13A>C
NR_104215.2:n.13A>C
NR_104216.2:n.13A>C