Canonical Allele Identifier: CA376071873

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828384G>C (hg19) ; chr10:g.18539455G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539455G>C , CM000672.2:g.18539455G>C	GRCh38
NC_000010.10:g.18828384G>C , CM000672.1:g.18828384G>C	GRCh37
NC_000010.9:g.18868390G>C	NCBI36
NG_016195.1:g.403779G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1570G>C (CACNB2)	ENSP00000366532.4:p.Glu524Gln
ENST00000377319.9:c.1435G>C (CACNB2)	ENSP00000366536.3:p.Glu479Gln
ENST00000645287.2:c.1558G>C (CACNB2)	ENSP00000496203.1:p.Glu520Gln
ENST00000282343.13:c.1630G>C (CACNB2)	ENSP00000282343.8:p.Glu544Gln
ENST00000324631.13:c.1714G>C (CACNB2) MANE Select	ENSP00000320025.8:p.Glu572Gln
ENST00000377315.5:c.1570G>C (CACNB2)	ENSP00000366532.4:p.Glu524Gln
ENST00000377319.8:c.1435G>C (CACNB2)	ENSP00000366536.3:p.Glu479Gln
ENST00000377329.10:c.1552G>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Glu518Gln
ENST00000377331.8:c.1339G>C (CACNB2)	ENSP00000366548.4:p.Glu447Gln
ENST00000643096.2:c.1516G>C (CACNB2)	ENSP00000494209.2:p.Glu506Gln
ENST00000645287.1:c.1558G>C (CACNB2)	ENSP00000496203.1:p.Glu520Gln
ENST00000647168.2:c.*855G>C (CACNB2)	ENSP00000495854.2:n.*855G>C
ENST00000650685.1:c.1456G>C (CACNB2)	ENSP00000498460.1:p.Glu486Gln
ENST00000651330.1:c.*988G>C (CACNB2)	ENSP00000498457.1:n.*988G>C
ENST00000651468.1:c.1271G>C (CACNB2)	ENSP00000498352.1:n.1271G>C
ENST00000651928.1:c.*953G>C (CACNB2)	ENSP00000499177.1:n.*953G>C
ENST00000652391.1:c.1534G>C (CACNB2)	ENSP00000498938.1:p.Glu512Gln
ENST00000652478.1:c.*814G>C (CACNB2)	ENSP00000498812.1:n.*814G>C
ENST00000282343.12:c.1630G>C (CACNB2)	ENSP00000282343.8:p.Glu544Gln
ENST00000324631.11:c.1714G>C (CACNB2)	ENSP00000320025.7:p.Glu572Gln
ENST00000352115.10:c.1642G>C (CACNB2)	ENSP00000344474.6:p.Glu548Gln
ENST00000377315.4:c.1570G>C (CACNB2)	ENSP00000366532.4:p.Glu524Gln
ENST00000377319.7:c.1435G>C (CACNB2)	ENSP00000366536.3:p.Glu479Gln
ENST00000377328.5:c.964G>C (CACNB2)	ENSP00000366545.1:p.Glu322Gln
ENST00000377329.8:c.1552G>C (CACNB2)	ENSP00000366546.4:p.Glu518Gln
ENST00000377331.6:c.1558G>C (CACNB2)	ENSP00000366548.2:p.Glu520Gln
ENST00000396576.6:c.1549G>C (CACNB2)	ENSP00000379821.2:p.Glu517Gln
ENST00000612134.4:c.1418G>C (CACNB2)	ENSP00000480563.1:n.1418G>C
ENST00000612743.1:c.226G>C (CACNB2)	ENSP00000478676.1:p.Glu76Gln
ENST00000615785.4:c.799G>C (CACNB2)	ENSP00000480260.1:p.Glu267Gln
ENST00000617363.4:c.1477G>C (CACNB2)	ENSP00000479756.1:p.Glu493Gln
NM_000724.3:c.1549G>C (CACNB2)	NP_000715.2:p.Glu517Gln
NM_001167945.1:c.1516G>C (CACNB2)	NP_001161417.1:p.Glu506Gln
NM_201570.2:c.1570G>C (CACNB2)	NP_963864.1:p.Glu524Gln
NM_201571.3:c.1630G>C (CACNB2)	NP_963865.2:p.Glu544Gln
NM_201572.3:c.1558G>C (CACNB2)	NP_963866.2:p.Glu520Gln
NM_201590.2:c.1552G>C (CACNB2)	NP_963884.2:p.Glu518Gln
NM_201593.2:c.1600G>C (CACNB2)	NP_963887.2:p.Glu534Gln
NM_201596.2:c.1714G>C (CACNB2)	NP_963890.2:p.Glu572Gln
NM_201597.2:c.1642G>C (CACNB2)	NP_963891.1:p.Glu548Gln
XM_005252588.2:c.1456G>C (CACNB2)	XP_005252645.1:p.Glu486Gln
XM_005252591.2:c.874G>C (CACNB2)	XP_005252648.1:p.Glu292Gln
XM_006717502.2:c.1534G>C (CACNB2)	XP_006717565.1:p.Glu512Gln
XM_011519659.1:c.1480G>C (CACNB2)	XP_011517961.1:p.Glu494Gln
XM_011519660.1:c.1435G>C (CACNB2)	XP_011517962.1:p.Glu479Gln
NM_001330060.1:c.1435G>C (CACNB2)	NP_001316989.1:p.Glu479Gln
XM_005252588.4:c.1456G>C (CACNB2)	XP_005252645.1:p.Glu486Gln
XM_005252591.3:c.874G>C (CACNB2)	XP_005252648.1:p.Glu292Gln
XM_006717502.3:c.1534G>C (CACNB2)	XP_006717565.1:p.Glu512Gln
XM_011519659.2:c.1480G>C (CACNB2)	XP_011517961.1:p.Glu494Gln
XM_017016625.1:c.874G>C (CACNB2)	XP_016872114.1:p.Glu292Gln
XR_001747060.1:n.2423+2614C>G (NSUN6)
XR_001747198.1:n.1839G>C (CACNB2)
NM_000724.4:c.1549G>C (CACNB2)	NP_000715.2:p.Glu517Gln
NM_001167945.2:c.1516G>C (CACNB2)	NP_001161417.1:p.Glu506Gln
NM_001330060.2:c.1435G>C (CACNB2)	NP_001316989.1:p.Glu479Gln
NM_201570.3:c.1570G>C (CACNB2)	NP_963864.1:p.Glu524Gln
NM_201571.4:c.1630G>C (CACNB2)	NP_963865.2:p.Glu544Gln
NM_201572.4:c.1558G>C (CACNB2)	NP_963866.2:p.Glu520Gln
NM_201590.3:c.1552G>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Glu518Gln
NM_201593.3:c.1600G>C (CACNB2)	NP_963887.2:p.Glu534Gln
NM_201596.3:c.1714G>C (CACNB2) MANE Select	NP_963890.2:p.Glu572Gln
NM_201597.3:c.1642G>C (CACNB2)	NP_963891.1:p.Glu548Gln