Canonical Allele Identifier: CA539522521

Gene: BARD1

Linked Data

• dbSNP Id: rs1422606932
• gnomAD v2: 2-215674431-C-G
• gnomAD v3: 2-214809707-C-G
• gnomAD v4: 2-214809707-C-G
• MyVariant Identifiers: chr2:g.215674431C>G (hg19) ; chr2:g.214809707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809707C>G , CM000664.2:g.214809707C>G	GRCh38
NC_000002.11:g.215674431C>G , CM000664.1:g.215674431C>G	GRCh37
NC_000002.10:g.215382676C>G	NCBI36
NG_012047.2:g.4998G>C
NG_012047.3:g.5005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613374.4:c.-138G>C	ENSP00000484464.1:n.-138G>C
ENST00000613706.4:c.-138G>C	ENSP00000484976.1:n.-138G>C
ENST00000617164.4:c.-138G>C	ENSP00000480470.1:n.-138G>C
ENST00000619009.4:c.-138G>C	ENSP00000482293.1:n.-138G>C
NM_000465.3:c.-138G>C	NP_000456.2:n.-138G>C
NM_001282543.1:c.-138G>C	NP_001269472.1:n.-138G>C
NM_001282545.1:c.-138G>C	NP_001269474.1:n.-138G>C
NM_001282548.1:c.-138G>C	NP_001269477.1:n.-138G>C
NM_001282549.1:c.-138G>C	NP_001269478.1:n.-138G>C
NR_104212.1:n.5G>C
NR_104215.1:n.5G>C
NR_104216.1:n.5G>C
XM_011511568.1:c.-138G>C	XP_011509870.1:n.-138G>C