Canonical Allele Identifier: CA376071683

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828338C>G (hg19) ; chr10:g.18539409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539409C>G , CM000672.2:g.18539409C>G	GRCh38
NC_000010.10:g.18828338C>G , CM000672.1:g.18828338C>G	GRCh37
NC_000010.9:g.18868344C>G	NCBI36
NG_016195.1:g.403733C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1524C>G (CACNB2)	ENSP00000366532.4:p.Asp508Glu
ENST00000377319.9:c.1389C>G (CACNB2)	ENSP00000366536.3:p.Asp463Glu
ENST00000645287.2:c.1512C>G (CACNB2)	ENSP00000496203.1:p.Asp504Glu
ENST00000282343.13:c.1584C>G (CACNB2)	ENSP00000282343.8:p.Asp528Glu
ENST00000324631.13:c.1668C>G (CACNB2) MANE Select	ENSP00000320025.8:p.Asp556Glu
ENST00000377315.5:c.1524C>G (CACNB2)	ENSP00000366532.4:p.Asp508Glu
ENST00000377319.8:c.1389C>G (CACNB2)	ENSP00000366536.3:p.Asp463Glu
ENST00000377329.10:c.1506C>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp502Glu
ENST00000377331.8:c.1293C>G (CACNB2)	ENSP00000366548.4:p.Asp431Glu
ENST00000643096.2:c.1470C>G (CACNB2)	ENSP00000494209.2:p.Asp490Glu
ENST00000645287.1:c.1512C>G (CACNB2)	ENSP00000496203.1:p.Asp504Glu
ENST00000647168.2:c.*809C>G (CACNB2)	ENSP00000495854.2:n.*809C>G
ENST00000650685.1:c.1410C>G (CACNB2)	ENSP00000498460.1:p.Asp470Glu
ENST00000651330.1:c.*942C>G (CACNB2)	ENSP00000498457.1:n.*942C>G
ENST00000651468.1:c.1225C>G (CACNB2)	ENSP00000498352.1:n.1225C>G
ENST00000651928.1:c.*907C>G (CACNB2)	ENSP00000499177.1:n.*907C>G
ENST00000652391.1:c.1488C>G (CACNB2)	ENSP00000498938.1:p.Asp496Glu
ENST00000652478.1:c.*768C>G (CACNB2)	ENSP00000498812.1:n.*768C>G
ENST00000282343.12:c.1584C>G (CACNB2)	ENSP00000282343.8:p.Asp528Glu
ENST00000324631.11:c.1668C>G (CACNB2)	ENSP00000320025.7:p.Asp556Glu
ENST00000352115.10:c.1596C>G (CACNB2)	ENSP00000344474.6:p.Asp532Glu
ENST00000377315.4:c.1524C>G (CACNB2)	ENSP00000366532.4:p.Asp508Glu
ENST00000377319.7:c.1389C>G (CACNB2)	ENSP00000366536.3:p.Asp463Glu
ENST00000377328.5:c.918C>G (CACNB2)	ENSP00000366545.1:p.Asp306Glu
ENST00000377329.8:c.1506C>G (CACNB2)	ENSP00000366546.4:p.Asp502Glu
ENST00000377331.6:c.1512C>G (CACNB2)	ENSP00000366548.2:p.Asp504Glu
ENST00000396576.6:c.1503C>G (CACNB2)	ENSP00000379821.2:p.Asp501Glu
ENST00000612134.4:c.1372C>G (CACNB2)	ENSP00000480563.1:n.1372C>G
ENST00000612743.1:c.180C>G (CACNB2)	ENSP00000478676.1:p.Asp60Glu
ENST00000615785.4:c.753C>G (CACNB2)	ENSP00000480260.1:p.Asp251Glu
ENST00000617363.4:c.1431C>G (CACNB2)	ENSP00000479756.1:p.Asp477Glu
NM_000724.3:c.1503C>G (CACNB2)	NP_000715.2:p.Asp501Glu
NM_001167945.1:c.1470C>G (CACNB2)	NP_001161417.1:p.Asp490Glu
NM_201570.2:c.1524C>G (CACNB2)	NP_963864.1:p.Asp508Glu
NM_201571.3:c.1584C>G (CACNB2)	NP_963865.2:p.Asp528Glu
NM_201572.3:c.1512C>G (CACNB2)	NP_963866.2:p.Asp504Glu
NM_201590.2:c.1506C>G (CACNB2)	NP_963884.2:p.Asp502Glu
NM_201593.2:c.1554C>G (CACNB2)	NP_963887.2:p.Asp518Glu
NM_201596.2:c.1668C>G (CACNB2)	NP_963890.2:p.Asp556Glu
NM_201597.2:c.1596C>G (CACNB2)	NP_963891.1:p.Asp532Glu
XM_005252588.2:c.1410C>G (CACNB2)	XP_005252645.1:p.Asp470Glu
XM_005252591.2:c.828C>G (CACNB2)	XP_005252648.1:p.Asp276Glu
XM_006717502.2:c.1488C>G (CACNB2)	XP_006717565.1:p.Asp496Glu
XM_011519659.1:c.1434C>G (CACNB2)	XP_011517961.1:p.Asp478Glu
XM_011519660.1:c.1389C>G (CACNB2)	XP_011517962.1:p.Asp463Glu
NM_001330060.1:c.1389C>G (CACNB2)	NP_001316989.1:p.Asp463Glu
XM_005252588.4:c.1410C>G (CACNB2)	XP_005252645.1:p.Asp470Glu
XM_005252591.3:c.828C>G (CACNB2)	XP_005252648.1:p.Asp276Glu
XM_006717502.3:c.1488C>G (CACNB2)	XP_006717565.1:p.Asp496Glu
XM_011519659.2:c.1434C>G (CACNB2)	XP_011517961.1:p.Asp478Glu
XM_017016625.1:c.828C>G (CACNB2)	XP_016872114.1:p.Asp276Glu
XR_001747060.1:n.2423+2660G>C (NSUN6)
XR_001747198.1:n.1793C>G (CACNB2)
NM_000724.4:c.1503C>G (CACNB2)	NP_000715.2:p.Asp501Glu
NM_001167945.2:c.1470C>G (CACNB2)	NP_001161417.1:p.Asp490Glu
NM_001330060.2:c.1389C>G (CACNB2)	NP_001316989.1:p.Asp463Glu
NM_201570.3:c.1524C>G (CACNB2)	NP_963864.1:p.Asp508Glu
NM_201571.4:c.1584C>G (CACNB2)	NP_963865.2:p.Asp528Glu
NM_201572.4:c.1512C>G (CACNB2)	NP_963866.2:p.Asp504Glu
NM_201590.3:c.1506C>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp502Glu
NM_201593.3:c.1554C>G (CACNB2)	NP_963887.2:p.Asp518Glu
NM_201596.3:c.1668C>G (CACNB2) MANE Select	NP_963890.2:p.Asp556Glu
NM_201597.3:c.1596C>G (CACNB2)	NP_963891.1:p.Asp532Glu