Canonical Allele Identifier: CA431147801

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1776730
• ClinVar RCV Id: RCV002401188 ; RCV003774418
• MyVariant Identifiers: chr2:g.215617221A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752497A>G , CM000664.2:g.214752497A>G	GRCh38
NC_000002.11:g.215617221A>G , CM000664.1:g.215617221A>G	GRCh37
NC_000002.10:g.215325466A>G	NCBI36
NG_012047.2:g.62208T>C
NG_012047.3:g.62215T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1627T>C MANE Select	ENSP00000260947.4:p.Leu543=
ENST00000421162.2:c.274T>C	ENSP00000392245.2:p.Leu92=
ENST00000613192.2:c.159-21989T>C	ENSP00000483275.2:n.159-21989T>C
ENST00000613374.5:c.217T>C	ENSP00000484464.1:p.Leu73=
ENST00000613706.5:c.1219T>C	ENSP00000484976.2:p.Leu407=
ENST00000617164.5:c.1570T>C	ENSP00000480470.1:p.Leu524=
ENST00000619009.5:c.365-21989T>C	ENSP00000482293.1:n.365-21989T>C
ENST00000650978.1:c.3002T>C
ENST00000260947.8:c.1627T>C	ENSP00000260947.4:p.Leu543=
ENST00000421162.1:c.274T>C	ENSP00000392245.1:p.Leu92=
ENST00000455743.5:c.*1247T>C	ENSP00000412186.1:n.*1247T>C
ENST00000613192.1:c.74-21989T>C	ENSP00000483275.1:n.74-21989T>C
ENST00000613374.4:c.217T>C	ENSP00000484464.1:p.Leu73=
ENST00000613706.4:c.274T>C	ENSP00000484976.1:p.Leu92=
ENST00000617164.4:c.1570T>C	ENSP00000480470.1:p.Leu524=
ENST00000619009.4:c.365-21989T>C	ENSP00000482293.1:n.365-21989T>C
ENST00000620057.4:c.*293T>C	ENSP00000481988.1:n.*293T>C
NM_000465.3:c.1627T>C	NP_000456.2:p.Leu543=
NM_001282543.1:c.1570T>C	NP_001269472.1:p.Leu524=
NM_001282545.1:c.274T>C	NP_001269474.1:p.Leu92=
NM_001282548.1:c.217T>C	NP_001269477.1:p.Leu73=
NM_001282549.1:c.365-21989T>C	NP_001269478.1:n.365-21989T>C
NR_104212.1:n.1620T>C
NR_104215.1:n.1563T>C
NR_104216.1:n.819T>C
XM_011511567.1:c.1573T>C	XP_011509869.1:p.Leu525=
XM_011511568.1:c.1627T>C	XP_011509870.1:p.Leu543=
XM_017004613.1:c.1726T>C	XP_016860102.1:p.Leu576=
XM_017004614.1:c.1726T>C	XP_016860103.1:p.Leu576=
XR_002959322.1:n.1817T>C
NM_000465.4:c.1627T>C MANE Select	NP_000456.2:p.Leu543=
NM_001282543.2:c.1570T>C	NP_001269472.1:p.Leu524=
NM_001282545.2:c.274T>C	NP_001269474.1:p.Leu92=
NM_001282548.2:c.217T>C	NP_001269477.1:p.Leu73=
NM_001282549.2:c.365-21989T>C	NP_001269478.1:n.365-21989T>C
NR_104212.2:n.1592T>C
NR_104215.2:n.1535T>C
NR_104216.2:n.791T>C