Canonical Allele Identifier: CA350454046

Gene: BARD1

Linked Data

• gnomAD v4: 2-214780768-T-G
• MyVariant Identifiers: chr2:g.215645492T>G (hg19) ; chr2:g.214780768T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780768T>G , CM000664.2:g.214780768T>G	GRCh38
NC_000002.11:g.215645492T>G , CM000664.1:g.215645492T>G	GRCh37
NC_000002.10:g.215353737T>G	NCBI36
NG_012047.2:g.33937A>C
NG_012047.3:g.33944A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1106A>C MANE Select	ENSP00000260947.4:p.Lys369Thr
ENST00000421162.2:c.215+16293A>C	ENSP00000392245.2:n.215+16293A>C
ENST00000613192.2:c.158+28644A>C	ENSP00000483275.2:n.158+28644A>C
ENST00000613374.5:c.159-28213A>C	ENSP00000484464.1:n.159-28213A>C
ENST00000613706.5:c.906+200A>C	ENSP00000484976.2:n.906+200A>C
ENST00000617164.5:c.1049A>C	ENSP00000480470.1:p.Lys350Thr
ENST00000619009.5:c.364+11529A>C	ENSP00000482293.1:n.364+11529A>C
ENST00000650978.1:c.948A>C
ENST00000260947.8:c.1106A>C	ENSP00000260947.4:p.Lys369Thr
ENST00000421162.1:c.215+16293A>C	ENSP00000392245.1:n.215+16293A>C
ENST00000455743.5:c.*726A>C	ENSP00000412186.1:n.*726A>C
ENST00000613192.1:c.73+28644A>C	ENSP00000483275.1:n.73+28644A>C
ENST00000613374.4:c.159-28213A>C	ENSP00000484464.1:n.159-28213A>C
ENST00000613706.4:c.215+16293A>C	ENSP00000484976.1:n.215+16293A>C
ENST00000617164.4:c.1049A>C	ENSP00000480470.1:p.Lys350Thr
ENST00000619009.4:c.364+11529A>C	ENSP00000482293.1:n.364+11529A>C
ENST00000620057.4:c.365-11456A>C	ENSP00000481988.1:n.365-11456A>C
NM_000465.3:c.1106A>C	NP_000456.2:p.Lys369Thr
NM_001282543.1:c.1049A>C	NP_001269472.1:p.Lys350Thr
NM_001282545.1:c.215+16293A>C	NP_001269474.1:n.215+16293A>C
NM_001282548.1:c.159-28213A>C	NP_001269477.1:n.159-28213A>C
NM_001282549.1:c.364+11529A>C	NP_001269478.1:n.364+11529A>C
NR_104212.1:n.1099A>C
NR_104215.1:n.1042A>C
NR_104216.1:n.507-11456A>C
XM_011511567.1:c.1052A>C	XP_011509869.1:p.Lys351Thr
XM_011511568.1:c.1106A>C	XP_011509870.1:p.Lys369Thr
XM_017004613.1:c.1205A>C	XP_016860102.1:p.Lys402Thr
XM_017004614.1:c.1205A>C	XP_016860103.1:p.Lys402Thr
XR_002959322.1:n.1296A>C
NM_000465.4:c.1106A>C MANE Select	NP_000456.2:p.Lys369Thr
NM_001282543.2:c.1049A>C	NP_001269472.1:p.Lys350Thr
NM_001282545.2:c.215+16293A>C	NP_001269474.1:n.215+16293A>C
NM_001282548.2:c.159-28213A>C	NP_001269477.1:n.159-28213A>C
NM_001282549.2:c.364+11529A>C	NP_001269478.1:n.364+11529A>C
NR_104212.2:n.1071A>C
NR_104215.2:n.1014A>C
NR_104216.2:n.479-11456A>C