Canonical Allele Identifier: CA64802899

Gene: BARD1

Linked Data

• ClinVar Variation Id: 460720
• ClinVar RCV Id: RCV000557563
• dbSNP Id: rs547417612
• gnomAD v2: 2-215610491-C-A
• gnomAD v3: 2-214745767-C-A
• gnomAD v4: 2-214745767-C-A
• MyVariant Identifiers: chr2:g.215610491C>A (hg19) ; chr2:g.214745767C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745767C>A , CM000664.2:g.214745767C>A	GRCh38
NC_000002.11:g.215610491C>A , CM000664.1:g.215610491C>A	GRCh37
NC_000002.10:g.215318736C>A	NCBI36
NG_012047.2:g.68938G>T
NG_012047.3:g.68945G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1765G>T MANE Select	ENSP00000260947.4:p.Ala589Ser
ENST00000421162.2:c.412G>T	ENSP00000392245.2:p.Ala138Ser
ENST00000613192.2:c.159-15259G>T	ENSP00000483275.2:n.159-15259G>T
ENST00000613374.5:c.355G>T	ENSP00000484464.1:p.Ala119Ser
ENST00000613706.5:c.1357G>T	ENSP00000484976.2:p.Ala453Ser
ENST00000617164.5:c.1708G>T	ENSP00000480470.1:p.Ala570Ser
ENST00000619009.5:c.365-15259G>T	ENSP00000482293.1:n.365-15259G>T
ENST00000650978.1:c.3140G>T
ENST00000260947.8:c.1765G>T	ENSP00000260947.4:p.Ala589Ser
ENST00000421162.1:c.412G>T	ENSP00000392245.1:p.Ala138Ser
ENST00000455743.5:c.*1385G>T	ENSP00000412186.1:n.*1385G>T
ENST00000465841.1:n.120G>T
ENST00000613192.1:c.74-15259G>T	ENSP00000483275.1:n.74-15259G>T
ENST00000613374.4:c.355G>T	ENSP00000484464.1:p.Ala119Ser
ENST00000613706.4:c.412G>T	ENSP00000484976.1:p.Ala138Ser
ENST00000617164.4:c.1708G>T	ENSP00000480470.1:p.Ala570Ser
ENST00000619009.4:c.365-15259G>T	ENSP00000482293.1:n.365-15259G>T
ENST00000620057.4:c.*431G>T	ENSP00000481988.1:n.*431G>T
NM_000465.3:c.1765G>T	NP_000456.2:p.Ala589Ser
NM_001282543.1:c.1708G>T	NP_001269472.1:p.Ala570Ser
NM_001282545.1:c.412G>T	NP_001269474.1:p.Ala138Ser
NM_001282548.1:c.355G>T	NP_001269477.1:p.Ala119Ser
NM_001282549.1:c.365-15259G>T	NP_001269478.1:n.365-15259G>T
NR_104212.1:n.1758G>T
NR_104215.1:n.1701G>T
NR_104216.1:n.957G>T
XM_011511567.1:c.1711G>T	XP_011509869.1:p.Ala571Ser
XM_011511568.1:c.1765G>T	XP_011509870.1:p.Ala589Ser
XM_017004613.1:c.1864G>T	XP_016860102.1:p.Ala622Ser
XM_017004614.1:c.1864G>T	XP_016860103.1:p.Ala622Ser
XR_002959322.1:n.1955G>T
NM_000465.4:c.1765G>T MANE Select	NP_000456.2:p.Ala589Ser
NM_001282543.2:c.1708G>T	NP_001269472.1:p.Ala570Ser
NM_001282545.2:c.412G>T	NP_001269474.1:p.Ala138Ser
NM_001282548.2:c.355G>T	NP_001269477.1:p.Ala119Ser
NM_001282549.2:c.365-15259G>T	NP_001269478.1:n.365-15259G>T
NR_104212.2:n.1730G>T
NR_104215.2:n.1673G>T
NR_104216.2:n.929G>T