Canonical Allele Identifier: CA350452189

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609839T>G (hg19) ; chr2:g.214745115T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745115T>G , CM000664.2:g.214745115T>G	GRCh38
NC_000002.11:g.215609839T>G , CM000664.1:g.215609839T>G	GRCh37
NC_000002.10:g.215318084T>G	NCBI36
NG_012047.2:g.69590A>C
NG_012047.3:g.69597A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1855A>C MANE Select	ENSP00000260947.4:p.Lys619Gln
ENST00000421162.2:c.502A>C	ENSP00000392245.2:p.Lys168Gln
ENST00000613192.2:c.159-14607A>C	ENSP00000483275.2:n.159-14607A>C
ENST00000613374.5:c.445A>C	ENSP00000484464.1:p.Lys149Gln
ENST00000613706.5:c.1447A>C	ENSP00000484976.2:p.Lys483Gln
ENST00000617164.5:c.1798A>C	ENSP00000480470.1:p.Lys600Gln
ENST00000619009.5:c.365-14607A>C	ENSP00000482293.1:n.365-14607A>C
ENST00000650978.1:c.3230A>C
ENST00000260947.8:c.1855A>C	ENSP00000260947.4:p.Lys619Gln
ENST00000421162.1:c.502A>C	ENSP00000392245.1:p.Lys168Gln
ENST00000455743.5:c.*1475A>C	ENSP00000412186.1:n.*1475A>C
ENST00000613192.1:c.74-14607A>C	ENSP00000483275.1:n.74-14607A>C
ENST00000613374.4:c.445A>C	ENSP00000484464.1:p.Lys149Gln
ENST00000613706.4:c.502A>C	ENSP00000484976.1:p.Lys168Gln
ENST00000617164.4:c.1798A>C	ENSP00000480470.1:p.Lys600Gln
ENST00000619009.4:c.365-14607A>C	ENSP00000482293.1:n.365-14607A>C
ENST00000620057.4:c.*521A>C	ENSP00000481988.1:n.*521A>C
NM_000465.3:c.1855A>C	NP_000456.2:p.Lys619Gln
NM_001282543.1:c.1798A>C	NP_001269472.1:p.Lys600Gln
NM_001282545.1:c.502A>C	NP_001269474.1:p.Lys168Gln
NM_001282548.1:c.445A>C	NP_001269477.1:p.Lys149Gln
NM_001282549.1:c.365-14607A>C	NP_001269478.1:n.365-14607A>C
NR_104212.1:n.1848A>C
NR_104215.1:n.1791A>C
NR_104216.1:n.1047A>C
XM_011511567.1:c.1801A>C	XP_011509869.1:p.Lys601Gln
XM_011511568.1:c.1855A>C	XP_011509870.1:p.Lys619Gln
XM_017004613.1:c.1954A>C	XP_016860102.1:p.Lys652Gln
XM_017004614.1:c.1954A>C	XP_016860103.1:p.Lys652Gln
XR_002959322.1:n.2045A>C
NM_000465.4:c.1855A>C MANE Select	NP_000456.2:p.Lys619Gln
NM_001282543.2:c.1798A>C	NP_001269472.1:p.Lys600Gln
NM_001282545.2:c.502A>C	NP_001269474.1:p.Lys168Gln
NM_001282548.2:c.445A>C	NP_001269477.1:p.Lys149Gln
NM_001282549.2:c.365-14607A>C	NP_001269478.1:n.365-14607A>C
NR_104212.2:n.1820A>C
NR_104215.2:n.1763A>C
NR_104216.2:n.1019A>C