Canonical Allele Identifier: CA376071661

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539404-T-A
• MyVariant Identifiers: chr10:g.18828333T>A (hg19) ; chr10:g.18539404T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539404T>A , CM000672.2:g.18539404T>A	GRCh38
NC_000010.10:g.18828333T>A , CM000672.1:g.18828333T>A	GRCh37
NC_000010.9:g.18868339T>A	NCBI36
NG_016195.1:g.403728T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1519T>A (CACNB2)	ENSP00000366532.4:p.Phe507Ile
ENST00000377319.9:c.1384T>A (CACNB2)	ENSP00000366536.3:p.Phe462Ile
ENST00000645287.2:c.1507T>A (CACNB2)	ENSP00000496203.1:p.Phe503Ile
ENST00000282343.13:c.1579T>A (CACNB2)	ENSP00000282343.8:p.Phe527Ile
ENST00000324631.13:c.1663T>A (CACNB2) MANE Select	ENSP00000320025.8:p.Phe555Ile
ENST00000377315.5:c.1519T>A (CACNB2)	ENSP00000366532.4:p.Phe507Ile
ENST00000377319.8:c.1384T>A (CACNB2)	ENSP00000366536.3:p.Phe462Ile
ENST00000377329.10:c.1501T>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Phe501Ile
ENST00000377331.8:c.1288T>A (CACNB2)	ENSP00000366548.4:p.Phe430Ile
ENST00000643096.2:c.1465T>A (CACNB2)	ENSP00000494209.2:p.Phe489Ile
ENST00000645287.1:c.1507T>A (CACNB2)	ENSP00000496203.1:p.Phe503Ile
ENST00000647168.2:c.*804T>A (CACNB2)	ENSP00000495854.2:n.*804T>A
ENST00000650685.1:c.1405T>A (CACNB2)	ENSP00000498460.1:p.Phe469Ile
ENST00000651330.1:c.*937T>A (CACNB2)	ENSP00000498457.1:n.*937T>A
ENST00000651468.1:c.1220T>A (CACNB2)	ENSP00000498352.1:n.1220T>A
ENST00000651928.1:c.*902T>A (CACNB2)	ENSP00000499177.1:n.*902T>A
ENST00000652391.1:c.1483T>A (CACNB2)	ENSP00000498938.1:p.Phe495Ile
ENST00000652478.1:c.*763T>A (CACNB2)	ENSP00000498812.1:n.*763T>A
ENST00000282343.12:c.1579T>A (CACNB2)	ENSP00000282343.8:p.Phe527Ile
ENST00000324631.11:c.1663T>A (CACNB2)	ENSP00000320025.7:p.Phe555Ile
ENST00000352115.10:c.1591T>A (CACNB2)	ENSP00000344474.6:p.Phe531Ile
ENST00000377315.4:c.1519T>A (CACNB2)	ENSP00000366532.4:p.Phe507Ile
ENST00000377319.7:c.1384T>A (CACNB2)	ENSP00000366536.3:p.Phe462Ile
ENST00000377328.5:c.913T>A (CACNB2)	ENSP00000366545.1:p.Phe305Ile
ENST00000377329.8:c.1501T>A (CACNB2)	ENSP00000366546.4:p.Phe501Ile
ENST00000377331.6:c.1507T>A (CACNB2)	ENSP00000366548.2:p.Phe503Ile
ENST00000396576.6:c.1498T>A (CACNB2)	ENSP00000379821.2:p.Phe500Ile
ENST00000612134.4:c.1367T>A (CACNB2)	ENSP00000480563.1:n.1367T>A
ENST00000612743.1:c.175T>A (CACNB2)	ENSP00000478676.1:p.Phe59Ile
ENST00000615785.4:c.748T>A (CACNB2)	ENSP00000480260.1:p.Phe250Ile
ENST00000617363.4:c.1426T>A (CACNB2)	ENSP00000479756.1:p.Phe476Ile
NM_000724.3:c.1498T>A (CACNB2)	NP_000715.2:p.Phe500Ile
NM_001167945.1:c.1465T>A (CACNB2)	NP_001161417.1:p.Phe489Ile
NM_201570.2:c.1519T>A (CACNB2)	NP_963864.1:p.Phe507Ile
NM_201571.3:c.1579T>A (CACNB2)	NP_963865.2:p.Phe527Ile
NM_201572.3:c.1507T>A (CACNB2)	NP_963866.2:p.Phe503Ile
NM_201590.2:c.1501T>A (CACNB2)	NP_963884.2:p.Phe501Ile
NM_201593.2:c.1549T>A (CACNB2)	NP_963887.2:p.Phe517Ile
NM_201596.2:c.1663T>A (CACNB2)	NP_963890.2:p.Phe555Ile
NM_201597.2:c.1591T>A (CACNB2)	NP_963891.1:p.Phe531Ile
XM_005252588.2:c.1405T>A (CACNB2)	XP_005252645.1:p.Phe469Ile
XM_005252591.2:c.823T>A (CACNB2)	XP_005252648.1:p.Phe275Ile
XM_006717502.2:c.1483T>A (CACNB2)	XP_006717565.1:p.Phe495Ile
XM_011519659.1:c.1429T>A (CACNB2)	XP_011517961.1:p.Phe477Ile
XM_011519660.1:c.1384T>A (CACNB2)	XP_011517962.1:p.Phe462Ile
NM_001330060.1:c.1384T>A (CACNB2)	NP_001316989.1:p.Phe462Ile
XM_005252588.4:c.1405T>A (CACNB2)	XP_005252645.1:p.Phe469Ile
XM_005252591.3:c.823T>A (CACNB2)	XP_005252648.1:p.Phe275Ile
XM_006717502.3:c.1483T>A (CACNB2)	XP_006717565.1:p.Phe495Ile
XM_011519659.2:c.1429T>A (CACNB2)	XP_011517961.1:p.Phe477Ile
XM_017016625.1:c.823T>A (CACNB2)	XP_016872114.1:p.Phe275Ile
XR_001747060.1:n.2423+2665A>T (NSUN6)
XR_001747198.1:n.1788T>A (CACNB2)
NM_000724.4:c.1498T>A (CACNB2)	NP_000715.2:p.Phe500Ile
NM_001167945.2:c.1465T>A (CACNB2)	NP_001161417.1:p.Phe489Ile
NM_001330060.2:c.1384T>A (CACNB2)	NP_001316989.1:p.Phe462Ile
NM_201570.3:c.1519T>A (CACNB2)	NP_963864.1:p.Phe507Ile
NM_201571.4:c.1579T>A (CACNB2)	NP_963865.2:p.Phe527Ile
NM_201572.4:c.1507T>A (CACNB2)	NP_963866.2:p.Phe503Ile
NM_201590.3:c.1501T>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Phe501Ile
NM_201593.3:c.1549T>A (CACNB2)	NP_963887.2:p.Phe517Ile
NM_201596.3:c.1663T>A (CACNB2) MANE Select	NP_963890.2:p.Phe555Ile
NM_201597.3:c.1591T>A (CACNB2)	NP_963891.1:p.Phe531Ile