Canonical Allele Identifier: CA376071914

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs752753717
• MyVariant Identifiers: chr10:g.18828396C>A (hg19) ; chr10:g.18539467C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539467C>A , CM000672.2:g.18539467C>A	GRCh38
NC_000010.10:g.18828396C>A , CM000672.1:g.18828396C>A	GRCh37
NC_000010.9:g.18868402C>A	NCBI36
NG_016195.1:g.403791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1582C>A (CACNB2)	ENSP00000366532.4:p.His528Asn
ENST00000377319.9:c.1447C>A (CACNB2)	ENSP00000366536.3:p.His483Asn
ENST00000645287.2:c.1570C>A (CACNB2)	ENSP00000496203.1:p.His524Asn
ENST00000282343.13:c.1642C>A (CACNB2)	ENSP00000282343.8:p.His548Asn
ENST00000324631.13:c.1726C>A (CACNB2) MANE Select	ENSP00000320025.8:p.His576Asn
ENST00000377315.5:c.1582C>A (CACNB2)	ENSP00000366532.4:p.His528Asn
ENST00000377319.8:c.1447C>A (CACNB2)	ENSP00000366536.3:p.His483Asn
ENST00000377329.10:c.1564C>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His522Asn
ENST00000377331.8:c.1351C>A (CACNB2)	ENSP00000366548.4:p.His451Asn
ENST00000643096.2:c.1528C>A (CACNB2)	ENSP00000494209.2:p.His510Asn
ENST00000645287.1:c.1570C>A (CACNB2)	ENSP00000496203.1:p.His524Asn
ENST00000647168.2:c.*867C>A (CACNB2)	ENSP00000495854.2:n.*867C>A
ENST00000650685.1:c.1468C>A (CACNB2)	ENSP00000498460.1:p.His490Asn
ENST00000651330.1:c.*1000C>A (CACNB2)	ENSP00000498457.1:n.*1000C>A
ENST00000651468.1:c.1283C>A (CACNB2)	ENSP00000498352.1:n.1283C>A
ENST00000651928.1:c.*965C>A (CACNB2)	ENSP00000499177.1:n.*965C>A
ENST00000652391.1:c.1546C>A (CACNB2)	ENSP00000498938.1:p.His516Asn
ENST00000652478.1:c.*826C>A (CACNB2)	ENSP00000498812.1:n.*826C>A
ENST00000282343.12:c.1642C>A (CACNB2)	ENSP00000282343.8:p.His548Asn
ENST00000324631.11:c.1726C>A (CACNB2)	ENSP00000320025.7:p.His576Asn
ENST00000352115.10:c.1654C>A (CACNB2)	ENSP00000344474.6:p.His552Asn
ENST00000377315.4:c.1582C>A (CACNB2)	ENSP00000366532.4:p.His528Asn
ENST00000377319.7:c.1447C>A (CACNB2)	ENSP00000366536.3:p.His483Asn
ENST00000377328.5:c.976C>A (CACNB2)	ENSP00000366545.1:p.His326Asn
ENST00000377329.8:c.1564C>A (CACNB2)	ENSP00000366546.4:p.His522Asn
ENST00000377331.6:c.1570C>A (CACNB2)	ENSP00000366548.2:p.His524Asn
ENST00000396576.6:c.1561C>A (CACNB2)	ENSP00000379821.2:p.His521Asn
ENST00000612134.4:c.1430C>A (CACNB2)	ENSP00000480563.1:n.1430C>A
ENST00000612743.1:c.238C>A (CACNB2)	ENSP00000478676.1:p.His80Asn
ENST00000615785.4:c.811C>A (CACNB2)	ENSP00000480260.1:p.His271Asn
ENST00000617363.4:c.1489C>A (CACNB2)	ENSP00000479756.1:p.His497Asn
NM_000724.3:c.1561C>A (CACNB2)	NP_000715.2:p.His521Asn
NM_001167945.1:c.1528C>A (CACNB2)	NP_001161417.1:p.His510Asn
NM_201570.2:c.1582C>A (CACNB2)	NP_963864.1:p.His528Asn
NM_201571.3:c.1642C>A (CACNB2)	NP_963865.2:p.His548Asn
NM_201572.3:c.1570C>A (CACNB2)	NP_963866.2:p.His524Asn
NM_201590.2:c.1564C>A (CACNB2)	NP_963884.2:p.His522Asn
NM_201593.2:c.1612C>A (CACNB2)	NP_963887.2:p.His538Asn
NM_201596.2:c.1726C>A (CACNB2)	NP_963890.2:p.His576Asn
NM_201597.2:c.1654C>A (CACNB2)	NP_963891.1:p.His552Asn
XM_005252588.2:c.1468C>A (CACNB2)	XP_005252645.1:p.His490Asn
XM_005252591.2:c.886C>A (CACNB2)	XP_005252648.1:p.His296Asn
XM_006717502.2:c.1546C>A (CACNB2)	XP_006717565.1:p.His516Asn
XM_011519659.1:c.1492C>A (CACNB2)	XP_011517961.1:p.His498Asn
XM_011519660.1:c.1447C>A (CACNB2)	XP_011517962.1:p.His483Asn
NM_001330060.1:c.1447C>A (CACNB2)	NP_001316989.1:p.His483Asn
XM_005252588.4:c.1468C>A (CACNB2)	XP_005252645.1:p.His490Asn
XM_005252591.3:c.886C>A (CACNB2)	XP_005252648.1:p.His296Asn
XM_006717502.3:c.1546C>A (CACNB2)	XP_006717565.1:p.His516Asn
XM_011519659.2:c.1492C>A (CACNB2)	XP_011517961.1:p.His498Asn
XM_017016625.1:c.886C>A (CACNB2)	XP_016872114.1:p.His296Asn
XR_001747060.1:n.2423+2602G>T (NSUN6)
XR_001747198.1:n.1851C>A (CACNB2)
NM_000724.4:c.1561C>A (CACNB2)	NP_000715.2:p.His521Asn
NM_001167945.2:c.1528C>A (CACNB2)	NP_001161417.1:p.His510Asn
NM_001330060.2:c.1447C>A (CACNB2)	NP_001316989.1:p.His483Asn
NM_201570.3:c.1582C>A (CACNB2)	NP_963864.1:p.His528Asn
NM_201571.4:c.1642C>A (CACNB2)	NP_963865.2:p.His548Asn
NM_201572.4:c.1570C>A (CACNB2)	NP_963866.2:p.His524Asn
NM_201590.3:c.1564C>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.His522Asn
NM_201593.3:c.1612C>A (CACNB2)	NP_963887.2:p.His538Asn
NM_201596.3:c.1726C>A (CACNB2) MANE Select	NP_963890.2:p.His576Asn
NM_201597.3:c.1654C>A (CACNB2)	NP_963891.1:p.His552Asn