Canonical Allele Identifier: CA350456634

Gene: BARD1

Linked Data

• gnomAD v4: 2-214781240-C-A
• MyVariant Identifiers: chr2:g.215645964C>A (hg19) ; chr2:g.214781240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781240C>A , CM000664.2:g.214781240C>A	GRCh38
NC_000002.11:g.215645964C>A , CM000664.1:g.215645964C>A	GRCh37
NC_000002.10:g.215354209C>A	NCBI36
NG_012047.2:g.33465G>T
NG_012047.3:g.33472G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.634G>T MANE Select	ENSP00000260947.4:p.Ala212Ser
ENST00000421162.2:c.215+15821G>T	ENSP00000392245.2:n.215+15821G>T
ENST00000613192.2:c.158+28172G>T	ENSP00000483275.2:n.158+28172G>T
ENST00000613374.5:c.158+28172G>T	ENSP00000484464.1:n.158+28172G>T
ENST00000613706.5:c.634G>T	ENSP00000484976.2:p.Ala212Ser
ENST00000617164.5:c.577G>T	ENSP00000480470.1:p.Ala193Ser
ENST00000619009.5:c.364+11057G>T	ENSP00000482293.1:n.364+11057G>T
ENST00000650978.1:c.476G>T
ENST00000260947.8:c.634G>T	ENSP00000260947.4:p.Ala212Ser
ENST00000421162.1:c.215+15821G>T	ENSP00000392245.1:n.215+15821G>T
ENST00000455743.5:c.*254G>T	ENSP00000412186.1:n.*254G>T
ENST00000471787.1:n.529G>T
ENST00000613192.1:c.73+28172G>T	ENSP00000483275.1:n.73+28172G>T
ENST00000613374.4:c.158+28172G>T	ENSP00000484464.1:n.158+28172G>T
ENST00000613706.4:c.215+15821G>T	ENSP00000484976.1:n.215+15821G>T
ENST00000617164.4:c.577G>T	ENSP00000480470.1:p.Ala193Ser
ENST00000619009.4:c.364+11057G>T	ENSP00000482293.1:n.364+11057G>T
ENST00000620057.4:c.364+11057G>T	ENSP00000481988.1:n.364+11057G>T
NM_000465.3:c.634G>T	NP_000456.2:p.Ala212Ser
NM_001282543.1:c.577G>T	NP_001269472.1:p.Ala193Ser
NM_001282545.1:c.215+15821G>T	NP_001269474.1:n.215+15821G>T
NM_001282548.1:c.158+28172G>T	NP_001269477.1:n.158+28172G>T
NM_001282549.1:c.364+11057G>T	NP_001269478.1:n.364+11057G>T
NR_104212.1:n.627G>T
NR_104215.1:n.570G>T
NR_104216.1:n.506+11057G>T
XM_011511567.1:c.580G>T	XP_011509869.1:p.Ala194Ser
XM_011511568.1:c.634G>T	XP_011509870.1:p.Ala212Ser
XM_017004613.1:c.733G>T	XP_016860102.1:p.Ala245Ser
XM_017004614.1:c.733G>T	XP_016860103.1:p.Ala245Ser
XR_002959322.1:n.824G>T
NM_000465.4:c.634G>T MANE Select	NP_000456.2:p.Ala212Ser
NM_001282543.2:c.577G>T	NP_001269472.1:p.Ala193Ser
NM_001282545.2:c.215+15821G>T	NP_001269474.1:n.215+15821G>T
NM_001282548.2:c.158+28172G>T	NP_001269477.1:n.158+28172G>T
NM_001282549.2:c.364+11057G>T	NP_001269478.1:n.364+11057G>T
NR_104212.2:n.599G>T
NR_104215.2:n.542G>T
NR_104216.2:n.478+11057G>T