Canonical Allele Identifier: CA431147790

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2774781
• ClinVar RCV Id: RCV003585968 ; RCV003607602
• MyVariant Identifiers: chr2:g.215617216C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752492C>T , CM000664.2:g.214752492C>T	GRCh38
NC_000002.11:g.215617216C>T , CM000664.1:g.215617216C>T	GRCh37
NC_000002.10:g.215325461C>T	NCBI36
NG_012047.2:g.62213G>A
NG_012047.3:g.62220G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1632G>A MANE Select	ENSP00000260947.4:p.Leu544=
ENST00000421162.2:c.279G>A	ENSP00000392245.2:p.Leu93=
ENST00000613192.2:c.159-21984G>A	ENSP00000483275.2:n.159-21984G>A
ENST00000613374.5:c.222G>A	ENSP00000484464.1:p.Leu74=
ENST00000613706.5:c.1224G>A	ENSP00000484976.2:p.Leu408=
ENST00000617164.5:c.1575G>A	ENSP00000480470.1:p.Leu525=
ENST00000619009.5:c.365-21984G>A	ENSP00000482293.1:n.365-21984G>A
ENST00000650978.1:c.3007G>A
ENST00000260947.8:c.1632G>A	ENSP00000260947.4:p.Leu544=
ENST00000421162.1:c.279G>A	ENSP00000392245.1:p.Leu93=
ENST00000455743.5:c.*1252G>A	ENSP00000412186.1:n.*1252G>A
ENST00000613192.1:c.74-21984G>A	ENSP00000483275.1:n.74-21984G>A
ENST00000613374.4:c.222G>A	ENSP00000484464.1:p.Leu74=
ENST00000613706.4:c.279G>A	ENSP00000484976.1:p.Leu93=
ENST00000617164.4:c.1575G>A	ENSP00000480470.1:p.Leu525=
ENST00000619009.4:c.365-21984G>A	ENSP00000482293.1:n.365-21984G>A
ENST00000620057.4:c.*298G>A	ENSP00000481988.1:n.*298G>A
NM_000465.3:c.1632G>A	NP_000456.2:p.Leu544=
NM_001282543.1:c.1575G>A	NP_001269472.1:p.Leu525=
NM_001282545.1:c.279G>A	NP_001269474.1:p.Leu93=
NM_001282548.1:c.222G>A	NP_001269477.1:p.Leu74=
NM_001282549.1:c.365-21984G>A	NP_001269478.1:n.365-21984G>A
NR_104212.1:n.1625G>A
NR_104215.1:n.1568G>A
NR_104216.1:n.824G>A
XM_011511567.1:c.1578G>A	XP_011509869.1:p.Leu526=
XM_011511568.1:c.1632G>A	XP_011509870.1:p.Leu544=
XM_017004613.1:c.1731G>A	XP_016860102.1:p.Leu577=
XM_017004614.1:c.1731G>A	XP_016860103.1:p.Leu577=
XR_002959322.1:n.1822G>A
NM_000465.4:c.1632G>A MANE Select	NP_000456.2:p.Leu544=
NM_001282543.2:c.1575G>A	NP_001269472.1:p.Leu525=
NM_001282545.2:c.279G>A	NP_001269474.1:p.Leu93=
NM_001282548.2:c.222G>A	NP_001269477.1:p.Leu74=
NM_001282549.2:c.365-21984G>A	NP_001269478.1:n.365-21984G>A
NR_104212.2:n.1597G>A
NR_104215.2:n.1540G>A
NR_104216.2:n.796G>A