Canonical Allele Identifier: CA376071681

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828337A>G (hg19) ; chr10:g.18539408A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539408A>G , CM000672.2:g.18539408A>G	GRCh38
NC_000010.10:g.18828337A>G , CM000672.1:g.18828337A>G	GRCh37
NC_000010.9:g.18868343A>G	NCBI36
NG_016195.1:g.403732A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1523A>G (CACNB2)	ENSP00000366532.4:p.Asp508Gly
ENST00000377319.9:c.1388A>G (CACNB2)	ENSP00000366536.3:p.Asp463Gly
ENST00000645287.2:c.1511A>G (CACNB2)	ENSP00000496203.1:p.Asp504Gly
ENST00000282343.13:c.1583A>G (CACNB2)	ENSP00000282343.8:p.Asp528Gly
ENST00000324631.13:c.1667A>G (CACNB2) MANE Select	ENSP00000320025.8:p.Asp556Gly
ENST00000377315.5:c.1523A>G (CACNB2)	ENSP00000366532.4:p.Asp508Gly
ENST00000377319.8:c.1388A>G (CACNB2)	ENSP00000366536.3:p.Asp463Gly
ENST00000377329.10:c.1505A>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp502Gly
ENST00000377331.8:c.1292A>G (CACNB2)	ENSP00000366548.4:p.Asp431Gly
ENST00000643096.2:c.1469A>G (CACNB2)	ENSP00000494209.2:p.Asp490Gly
ENST00000645287.1:c.1511A>G (CACNB2)	ENSP00000496203.1:p.Asp504Gly
ENST00000647168.2:c.*808A>G (CACNB2)	ENSP00000495854.2:n.*808A>G
ENST00000650685.1:c.1409A>G (CACNB2)	ENSP00000498460.1:p.Asp470Gly
ENST00000651330.1:c.*941A>G (CACNB2)	ENSP00000498457.1:n.*941A>G
ENST00000651468.1:c.1224A>G (CACNB2)	ENSP00000498352.1:n.1224A>G
ENST00000651928.1:c.*906A>G (CACNB2)	ENSP00000499177.1:n.*906A>G
ENST00000652391.1:c.1487A>G (CACNB2)	ENSP00000498938.1:p.Asp496Gly
ENST00000652478.1:c.*767A>G (CACNB2)	ENSP00000498812.1:n.*767A>G
ENST00000282343.12:c.1583A>G (CACNB2)	ENSP00000282343.8:p.Asp528Gly
ENST00000324631.11:c.1667A>G (CACNB2)	ENSP00000320025.7:p.Asp556Gly
ENST00000352115.10:c.1595A>G (CACNB2)	ENSP00000344474.6:p.Asp532Gly
ENST00000377315.4:c.1523A>G (CACNB2)	ENSP00000366532.4:p.Asp508Gly
ENST00000377319.7:c.1388A>G (CACNB2)	ENSP00000366536.3:p.Asp463Gly
ENST00000377328.5:c.917A>G (CACNB2)	ENSP00000366545.1:p.Asp306Gly
ENST00000377329.8:c.1505A>G (CACNB2)	ENSP00000366546.4:p.Asp502Gly
ENST00000377331.6:c.1511A>G (CACNB2)	ENSP00000366548.2:p.Asp504Gly
ENST00000396576.6:c.1502A>G (CACNB2)	ENSP00000379821.2:p.Asp501Gly
ENST00000612134.4:c.1371A>G (CACNB2)	ENSP00000480563.1:n.1371A>G
ENST00000612743.1:c.179A>G (CACNB2)	ENSP00000478676.1:p.Asp60Gly
ENST00000615785.4:c.752A>G (CACNB2)	ENSP00000480260.1:p.Asp251Gly
ENST00000617363.4:c.1430A>G (CACNB2)	ENSP00000479756.1:p.Asp477Gly
NM_000724.3:c.1502A>G (CACNB2)	NP_000715.2:p.Asp501Gly
NM_001167945.1:c.1469A>G (CACNB2)	NP_001161417.1:p.Asp490Gly
NM_201570.2:c.1523A>G (CACNB2)	NP_963864.1:p.Asp508Gly
NM_201571.3:c.1583A>G (CACNB2)	NP_963865.2:p.Asp528Gly
NM_201572.3:c.1511A>G (CACNB2)	NP_963866.2:p.Asp504Gly
NM_201590.2:c.1505A>G (CACNB2)	NP_963884.2:p.Asp502Gly
NM_201593.2:c.1553A>G (CACNB2)	NP_963887.2:p.Asp518Gly
NM_201596.2:c.1667A>G (CACNB2)	NP_963890.2:p.Asp556Gly
NM_201597.2:c.1595A>G (CACNB2)	NP_963891.1:p.Asp532Gly
XM_005252588.2:c.1409A>G (CACNB2)	XP_005252645.1:p.Asp470Gly
XM_005252591.2:c.827A>G (CACNB2)	XP_005252648.1:p.Asp276Gly
XM_006717502.2:c.1487A>G (CACNB2)	XP_006717565.1:p.Asp496Gly
XM_011519659.1:c.1433A>G (CACNB2)	XP_011517961.1:p.Asp478Gly
XM_011519660.1:c.1388A>G (CACNB2)	XP_011517962.1:p.Asp463Gly
NM_001330060.1:c.1388A>G (CACNB2)	NP_001316989.1:p.Asp463Gly
XM_005252588.4:c.1409A>G (CACNB2)	XP_005252645.1:p.Asp470Gly
XM_005252591.3:c.827A>G (CACNB2)	XP_005252648.1:p.Asp276Gly
XM_006717502.3:c.1487A>G (CACNB2)	XP_006717565.1:p.Asp496Gly
XM_011519659.2:c.1433A>G (CACNB2)	XP_011517961.1:p.Asp478Gly
XM_017016625.1:c.827A>G (CACNB2)	XP_016872114.1:p.Asp276Gly
XR_001747060.1:n.2423+2661T>C (NSUN6)
XR_001747198.1:n.1792A>G (CACNB2)
NM_000724.4:c.1502A>G (CACNB2)	NP_000715.2:p.Asp501Gly
NM_001167945.2:c.1469A>G (CACNB2)	NP_001161417.1:p.Asp490Gly
NM_001330060.2:c.1388A>G (CACNB2)	NP_001316989.1:p.Asp463Gly
NM_201570.3:c.1523A>G (CACNB2)	NP_963864.1:p.Asp508Gly
NM_201571.4:c.1583A>G (CACNB2)	NP_963865.2:p.Asp528Gly
NM_201572.4:c.1511A>G (CACNB2)	NP_963866.2:p.Asp504Gly
NM_201590.3:c.1505A>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp502Gly
NM_201593.3:c.1553A>G (CACNB2)	NP_963887.2:p.Asp518Gly
NM_201596.3:c.1667A>G (CACNB2) MANE Select	NP_963890.2:p.Asp556Gly
NM_201597.3:c.1595A>G (CACNB2)	NP_963891.1:p.Asp532Gly