Canonical Allele Identifier: CA764564520

Gene: BARD1

Linked Data

• dbSNP Id: rs1234281222
• gnomAD v3: 2-214809689-G-T
• gnomAD v4: 2-214809689-G-T
• MyVariant Identifiers: chr2:g.215674413G>T (hg19) ; chr2:g.214809689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809689G>T , CM000664.2:g.214809689G>T	GRCh38
NC_000002.11:g.215674413G>T , CM000664.1:g.215674413G>T	GRCh37
NC_000002.10:g.215382658G>T	NCBI36
NG_012047.2:g.5016C>A
NG_012047.3:g.5023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.8:c.-120C>A	ENSP00000260947.4:n.-120C>A
ENST00000613374.4:c.-120C>A	ENSP00000484464.1:n.-120C>A
ENST00000613706.4:c.-120C>A	ENSP00000484976.1:n.-120C>A
ENST00000617164.4:c.-120C>A	ENSP00000480470.1:n.-120C>A
ENST00000619009.4:c.-120C>A	ENSP00000482293.1:n.-120C>A
NM_000465.3:c.-120C>A	NP_000456.2:n.-120C>A
NM_001282543.1:c.-120C>A	NP_001269472.1:n.-120C>A
NM_001282545.1:c.-120C>A	NP_001269474.1:n.-120C>A
NM_001282548.1:c.-120C>A	NP_001269477.1:n.-120C>A
NM_001282549.1:c.-120C>A	NP_001269478.1:n.-120C>A
NR_104212.1:n.23C>A
NR_104215.1:n.23C>A
NR_104216.1:n.23C>A
XM_011511568.1:c.-120C>A	XP_011509870.1:n.-120C>A