Canonical Allele Identifier: CA64810591

Gene: BARD1

Linked Data

• dbSNP Id: rs907533589
• gnomAD v3: 2-214809669-G-T
• gnomAD v4: 2-214809669-G-T
• MyVariant Identifiers: chr2:g.215674393G>T (hg19) ; chr2:g.214809669G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809669G>T , CM000664.2:g.214809669G>T	GRCh38
NC_000002.11:g.215674393G>T , CM000664.1:g.215674393G>T	GRCh37
NC_000002.10:g.215382638G>T	NCBI36
NG_012047.2:g.5036C>A
NG_012047.3:g.5043C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.-100C>A MANE Select	ENSP00000260947.4:n.-100C>A
ENST00000613192.2:c.-100C>A	ENSP00000483275.2:n.-100C>A
ENST00000613706.5:c.-100C>A	ENSP00000484976.2:n.-100C>A
ENST00000260947.8:c.-100C>A	ENSP00000260947.4:n.-100C>A
ENST00000421162.1:c.-100C>A	ENSP00000392245.1:n.-100C>A
ENST00000455743.5:c.-100C>A	ENSP00000412186.1:n.-100C>A
ENST00000471787.1:n.2C>A
ENST00000613192.1:c.-185C>A	ENSP00000483275.1:n.-185C>A
ENST00000613374.4:c.-100C>A	ENSP00000484464.1:n.-100C>A
ENST00000613706.4:c.-100C>A	ENSP00000484976.1:n.-100C>A
ENST00000617164.4:c.-100C>A	ENSP00000480470.1:n.-100C>A
ENST00000619009.4:c.-100C>A	ENSP00000482293.1:n.-100C>A
NM_000465.3:c.-100C>A	NP_000456.2:n.-100C>A
NM_001282543.1:c.-100C>A	NP_001269472.1:n.-100C>A
NM_001282545.1:c.-100C>A	NP_001269474.1:n.-100C>A
NM_001282548.1:c.-100C>A	NP_001269477.1:n.-100C>A
NM_001282549.1:c.-100C>A	NP_001269478.1:n.-100C>A
NR_104212.1:n.43C>A
NR_104215.1:n.43C>A
NR_104216.1:n.43C>A
XM_011511568.1:c.-100C>A	XP_011509870.1:n.-100C>A
NM_000465.4:c.-100C>A MANE Select	NP_000456.2:n.-100C>A
NM_001282543.2:c.-100C>A	NP_001269472.1:n.-100C>A
NM_001282545.2:c.-100C>A	NP_001269474.1:n.-100C>A
NM_001282548.2:c.-100C>A	NP_001269477.1:n.-100C>A
NM_001282549.2:c.-100C>A	NP_001269478.1:n.-100C>A
NR_104212.2:n.15C>A
NR_104215.2:n.15C>A
NR_104216.2:n.15C>A