Canonical Allele Identifier: CA350454803

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1776629
• ClinVar RCV Id: RCV002401087
• MyVariant Identifiers: chr2:g.215617226G>C (hg19) ; chr2:g.214752502G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752502G>C , CM000664.2:g.214752502G>C	GRCh38
NC_000002.11:g.215617226G>C , CM000664.1:g.215617226G>C	GRCh37
NC_000002.10:g.215325471G>C	NCBI36
NG_012047.2:g.62203C>G
NG_012047.3:g.62210C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1622C>G MANE Select	ENSP00000260947.4:p.Ser541Trp
ENST00000421162.2:c.269C>G	ENSP00000392245.2:p.Ser90Trp
ENST00000613192.2:c.159-21994C>G	ENSP00000483275.2:n.159-21994C>G
ENST00000613374.5:c.212C>G	ENSP00000484464.1:p.Ser71Trp
ENST00000613706.5:c.1214C>G	ENSP00000484976.2:p.Ser405Trp
ENST00000617164.5:c.1565C>G	ENSP00000480470.1:p.Ser522Trp
ENST00000619009.5:c.365-21994C>G	ENSP00000482293.1:n.365-21994C>G
ENST00000650978.1:c.2997C>G
ENST00000260947.8:c.1622C>G	ENSP00000260947.4:p.Ser541Trp
ENST00000421162.1:c.269C>G	ENSP00000392245.1:p.Ser90Trp
ENST00000455743.5:c.*1242C>G	ENSP00000412186.1:n.*1242C>G
ENST00000613192.1:c.74-21994C>G	ENSP00000483275.1:n.74-21994C>G
ENST00000613374.4:c.212C>G	ENSP00000484464.1:p.Ser71Trp
ENST00000613706.4:c.269C>G	ENSP00000484976.1:p.Ser90Trp
ENST00000617164.4:c.1565C>G	ENSP00000480470.1:p.Ser522Trp
ENST00000619009.4:c.365-21994C>G	ENSP00000482293.1:n.365-21994C>G
ENST00000620057.4:c.*288C>G	ENSP00000481988.1:n.*288C>G
NM_000465.3:c.1622C>G	NP_000456.2:p.Ser541Trp
NM_001282543.1:c.1565C>G	NP_001269472.1:p.Ser522Trp
NM_001282545.1:c.269C>G	NP_001269474.1:p.Ser90Trp
NM_001282548.1:c.212C>G	NP_001269477.1:p.Ser71Trp
NM_001282549.1:c.365-21994C>G	NP_001269478.1:n.365-21994C>G
NR_104212.1:n.1615C>G
NR_104215.1:n.1558C>G
NR_104216.1:n.814C>G
XM_011511567.1:c.1568C>G	XP_011509869.1:p.Ser523Trp
XM_011511568.1:c.1622C>G	XP_011509870.1:p.Ser541Trp
XM_017004613.1:c.1721C>G	XP_016860102.1:p.Ser574Trp
XM_017004614.1:c.1721C>G	XP_016860103.1:p.Ser574Trp
XR_002959322.1:n.1812C>G
NM_000465.4:c.1622C>G MANE Select	NP_000456.2:p.Ser541Trp
NM_001282543.2:c.1565C>G	NP_001269472.1:p.Ser522Trp
NM_001282545.2:c.269C>G	NP_001269474.1:p.Ser90Trp
NM_001282548.2:c.212C>G	NP_001269477.1:p.Ser71Trp
NM_001282549.2:c.365-21994C>G	NP_001269478.1:n.365-21994C>G
NR_104212.2:n.1587C>G
NR_104215.2:n.1530C>G
NR_104216.2:n.786C>G