Canonical Allele Identifier: CA163172

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539706T>G , CM000672.2:g.18539706T>G	GRCh38
NC_000010.10:g.18828635T>G , CM000672.1:g.18828635T>G	GRCh37
NC_000010.9:g.18868641T>G	NCBI36
NG_016195.1:g.404030T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201596.3:c.1965T>G (CACNB2) MANE Select	NP_963890.2:p.Asp655Glu
ENST00000324631.13:c.1965T>G (CACNB2) MANE Select	ENSP00000320025.8:p.Asp655Glu
NM_201590.3:c.1803T>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp601Glu
ENST00000377329.10:c.1803T>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp601Glu
NM_000724.3:c.1800T>G (CACNB2)	NP_000715.2:p.Asp600Glu
NM_000724.4:c.1800T>G (CACNB2)	NP_000715.2:p.Asp600Glu
NM_001167945.1:c.1767T>G (CACNB2)	NP_001161417.1:p.Asp589Glu
NM_001167945.2:c.1767T>G (CACNB2)	NP_001161417.1:p.Asp589Glu
NM_001330060.1:c.1686T>G (CACNB2)	NP_001316989.1:p.Asp562Glu
NM_001330060.2:c.1686T>G (CACNB2)	NP_001316989.1:p.Asp562Glu
NM_201570.2:c.1821T>G (CACNB2)	NP_963864.1:p.Asp607Glu
NM_201570.3:c.1821T>G (CACNB2)	NP_963864.1:p.Asp607Glu
NM_201571.3:c.1881T>G (CACNB2)	NP_963865.2:p.Asp627Glu
NM_201571.4:c.1881T>G (CACNB2)	NP_963865.2:p.Asp627Glu
NM_201572.3:c.1809T>G (CACNB2)	NP_963866.2:p.Asp603Glu
NM_201572.4:c.1809T>G (CACNB2)	NP_963866.2:p.Asp603Glu
NM_201590.2:c.1803T>G (CACNB2)	NP_963884.2:p.Asp601Glu
NM_201593.2:c.1851T>G (CACNB2)	NP_963887.2:p.Asp617Glu
NM_201593.3:c.1851T>G (CACNB2)	NP_963887.2:p.Asp617Glu
NM_201596.2:c.1965T>G (CACNB2)	NP_963890.2:p.Asp655Glu
NM_201597.2:c.1893T>G (CACNB2)	NP_963891.1:p.Asp631Glu
NM_201597.3:c.1893T>G (CACNB2)	NP_963891.1:p.Asp631Glu
ENST00000282343.12:c.1881T>G (CACNB2)	ENSP00000282343.8:p.Asp627Glu
ENST00000282343.13:c.1881T>G (CACNB2)	ENSP00000282343.8:p.Asp627Glu
ENST00000324631.11:c.1965T>G (CACNB2)	ENSP00000320025.7:p.Asp655Glu
ENST00000352115.10:c.1893T>G (CACNB2)	ENSP00000344474.6:p.Asp631Glu
ENST00000377315.4:c.1821T>G (CACNB2)	ENSP00000366532.4:p.Asp607Glu
ENST00000377315.5:c.1821T>G (CACNB2)	ENSP00000366532.4:p.Asp607Glu
ENST00000377315.6:c.1821T>G (CACNB2)	ENSP00000366532.4:p.Asp607Glu
ENST00000377319.7:c.1686T>G (CACNB2)	ENSP00000366536.3:p.Asp562Glu
ENST00000377319.8:c.1686T>G (CACNB2)	ENSP00000366536.3:p.Asp562Glu
ENST00000377319.9:c.1686T>G (CACNB2)	ENSP00000366536.3:p.Asp562Glu
ENST00000377328.5:c.1215T>G (CACNB2)	ENSP00000366545.1:p.Asp405Glu
ENST00000377329.8:c.1803T>G (CACNB2)	ENSP00000366546.4:p.Asp601Glu
ENST00000377331.6:c.1809T>G (CACNB2)	ENSP00000366548.2:p.Asp603Glu
ENST00000396576.6:c.1800T>G (CACNB2)	ENSP00000379821.2:p.Asp600Glu
ENST00000612134.4:c.1669T>G (CACNB2)	ENSP00000480563.1:n.1669T>G
ENST00000612743.1:c.477T>G (CACNB2)	ENSP00000478676.1:p.Asp159Glu
ENST00000615785.4:c.1050T>G (CACNB2)	ENSP00000480260.1:p.Asp350Glu
ENST00000617363.4:c.1728T>G (CACNB2)	ENSP00000479756.1:p.Asp576Glu
ENST00000645287.1:c.1809T>G (CACNB2)	ENSP00000496203.1:p.Asp603Glu
ENST00000645287.2:c.1809T>G (CACNB2)	ENSP00000496203.1:p.Asp603Glu
ENST00000647168.2:c.*1106T>G (CACNB2)	ENSP00000495854.2:n.*1106T>G
ENST00000650685.1:c.1707T>G (CACNB2)	ENSP00000498460.1:p.Asp569Glu
ENST00000651330.1:c.*1239T>G (CACNB2)	ENSP00000498457.1:n.*1239T>G
ENST00000651468.1:c.1522T>G (CACNB2)	ENSP00000498352.1:n.1522T>G
ENST00000651928.1:c.*1204T>G (CACNB2)	ENSP00000499177.1:n.*1204T>G
ENST00000652391.1:c.1785T>G (CACNB2)	ENSP00000498938.1:p.Asp595Glu
ENST00000652478.1:c.*1065T>G (CACNB2)	ENSP00000498812.1:n.*1065T>G
XM_005252588.2:c.1707T>G (CACNB2)	XP_005252645.1:p.Asp569Glu
XM_005252588.4:c.1707T>G (CACNB2)	XP_005252645.1:p.Asp569Glu
XM_005252591.2:c.1125T>G (CACNB2)	XP_005252648.1:p.Asp375Glu
XM_005252591.3:c.1125T>G (CACNB2)	XP_005252648.1:p.Asp375Glu
XM_006717502.2:c.1785T>G (CACNB2)	XP_006717565.1:p.Asp595Glu
XM_006717502.3:c.1785T>G (CACNB2)	XP_006717565.1:p.Asp595Glu
XM_011519659.1:c.1731T>G (CACNB2)	XP_011517961.1:p.Asp577Glu
XM_011519659.2:c.1731T>G (CACNB2)	XP_011517961.1:p.Asp577Glu
XM_011519660.1:c.1686T>G (CACNB2)	XP_011517962.1:p.Asp562Glu
XM_017016625.1:c.1125T>G (CACNB2)	XP_016872114.1:p.Asp375Glu
XR_001747060.1:n.2423+2363A>C (NSUN6)
XR_001747198.1:n.2090T>G (CACNB2)