Canonical Allele Identifier: CA431147809

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1151885
• ClinVar RCV Id: RCV001492959 ; RCV002405163
• dbSNP Id: rs2106038865
• MyVariant Identifiers: chr2:g.215617224G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752500G>A , CM000664.2:g.214752500G>A	GRCh38
NC_000002.11:g.215617224G>A , CM000664.1:g.215617224G>A	GRCh37
NC_000002.10:g.215325469G>A	NCBI36
NG_012047.2:g.62205C>T
NG_012047.3:g.62212C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1624C>T MANE Select	ENSP00000260947.4:p.Leu542=
ENST00000421162.2:c.271C>T	ENSP00000392245.2:p.Leu91=
ENST00000613192.2:c.159-21992C>T	ENSP00000483275.2:n.159-21992C>T
ENST00000613374.5:c.214C>T	ENSP00000484464.1:p.Leu72=
ENST00000613706.5:c.1216C>T	ENSP00000484976.2:p.Leu406=
ENST00000617164.5:c.1567C>T	ENSP00000480470.1:p.Leu523=
ENST00000619009.5:c.365-21992C>T	ENSP00000482293.1:n.365-21992C>T
ENST00000650978.1:c.2999C>T
ENST00000260947.8:c.1624C>T	ENSP00000260947.4:p.Leu542=
ENST00000421162.1:c.271C>T	ENSP00000392245.1:p.Leu91=
ENST00000455743.5:c.*1244C>T	ENSP00000412186.1:n.*1244C>T
ENST00000613192.1:c.74-21992C>T	ENSP00000483275.1:n.74-21992C>T
ENST00000613374.4:c.214C>T	ENSP00000484464.1:p.Leu72=
ENST00000613706.4:c.271C>T	ENSP00000484976.1:p.Leu91=
ENST00000617164.4:c.1567C>T	ENSP00000480470.1:p.Leu523=
ENST00000619009.4:c.365-21992C>T	ENSP00000482293.1:n.365-21992C>T
ENST00000620057.4:c.*290C>T	ENSP00000481988.1:n.*290C>T
NM_000465.3:c.1624C>T	NP_000456.2:p.Leu542=
NM_001282543.1:c.1567C>T	NP_001269472.1:p.Leu523=
NM_001282545.1:c.271C>T	NP_001269474.1:p.Leu91=
NM_001282548.1:c.214C>T	NP_001269477.1:p.Leu72=
NM_001282549.1:c.365-21992C>T	NP_001269478.1:n.365-21992C>T
NR_104212.1:n.1617C>T
NR_104215.1:n.1560C>T
NR_104216.1:n.816C>T
XM_011511567.1:c.1570C>T	XP_011509869.1:p.Leu524=
XM_011511568.1:c.1624C>T	XP_011509870.1:p.Leu542=
XM_017004613.1:c.1723C>T	XP_016860102.1:p.Leu575=
XM_017004614.1:c.1723C>T	XP_016860103.1:p.Leu575=
XR_002959322.1:n.1814C>T
NM_000465.4:c.1624C>T MANE Select	NP_000456.2:p.Leu542=
NM_001282543.2:c.1567C>T	NP_001269472.1:p.Leu523=
NM_001282545.2:c.271C>T	NP_001269474.1:p.Leu91=
NM_001282548.2:c.214C>T	NP_001269477.1:p.Leu72=
NM_001282549.2:c.365-21992C>T	NP_001269478.1:n.365-21992C>T
NR_104212.2:n.1589C>T
NR_104215.2:n.1532C>T
NR_104216.2:n.788C>T