Canonical Allele Identifier: CA376072474

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828496C>G (hg19) ; chr10:g.18539567C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539567C>G , CM000672.2:g.18539567C>G	GRCh38
NC_000010.10:g.18828496C>G , CM000672.1:g.18828496C>G	GRCh37
NC_000010.9:g.18868502C>G	NCBI36
NG_016195.1:g.403891C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1682C>G (CACNB2)	ENSP00000366532.4:p.Ser561Cys
ENST00000377319.9:c.1547C>G (CACNB2)	ENSP00000366536.3:p.Ser516Cys
ENST00000645287.2:c.1670C>G (CACNB2)	ENSP00000496203.1:p.Ser557Cys
ENST00000282343.13:c.1742C>G (CACNB2)	ENSP00000282343.8:p.Ser581Cys
ENST00000324631.13:c.1826C>G (CACNB2) MANE Select	ENSP00000320025.8:p.Ser609Cys
ENST00000377315.5:c.1682C>G (CACNB2)	ENSP00000366532.4:p.Ser561Cys
ENST00000377319.8:c.1547C>G (CACNB2)	ENSP00000366536.3:p.Ser516Cys
ENST00000377329.10:c.1664C>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser555Cys
ENST00000377331.8:c.1451C>G (CACNB2)	ENSP00000366548.4:p.Ser484Cys
ENST00000643096.2:c.1628C>G (CACNB2)	ENSP00000494209.2:p.Ser543Cys
ENST00000645287.1:c.1670C>G (CACNB2)	ENSP00000496203.1:p.Ser557Cys
ENST00000647168.2:c.*967C>G (CACNB2)	ENSP00000495854.2:n.*967C>G
ENST00000650685.1:c.1568C>G (CACNB2)	ENSP00000498460.1:p.Ser523Cys
ENST00000651330.1:c.*1100C>G (CACNB2)	ENSP00000498457.1:n.*1100C>G
ENST00000651468.1:c.1383C>G (CACNB2)	ENSP00000498352.1:n.1383C>G
ENST00000651928.1:c.*1065C>G (CACNB2)	ENSP00000499177.1:n.*1065C>G
ENST00000652391.1:c.1646C>G (CACNB2)	ENSP00000498938.1:p.Ser549Cys
ENST00000652478.1:c.*926C>G (CACNB2)	ENSP00000498812.1:n.*926C>G
ENST00000282343.12:c.1742C>G (CACNB2)	ENSP00000282343.8:p.Ser581Cys
ENST00000324631.11:c.1826C>G (CACNB2)	ENSP00000320025.7:p.Ser609Cys
ENST00000352115.10:c.1754C>G (CACNB2)	ENSP00000344474.6:p.Ser585Cys
ENST00000377315.4:c.1682C>G (CACNB2)	ENSP00000366532.4:p.Ser561Cys
ENST00000377319.7:c.1547C>G (CACNB2)	ENSP00000366536.3:p.Ser516Cys
ENST00000377328.5:c.1076C>G (CACNB2)	ENSP00000366545.1:p.Ser359Cys
ENST00000377329.8:c.1664C>G (CACNB2)	ENSP00000366546.4:p.Ser555Cys
ENST00000377331.6:c.1670C>G (CACNB2)	ENSP00000366548.2:p.Ser557Cys
ENST00000396576.6:c.1661C>G (CACNB2)	ENSP00000379821.2:p.Ser554Cys
ENST00000612134.4:c.1530C>G (CACNB2)	ENSP00000480563.1:n.1530C>G
ENST00000612743.1:c.338C>G (CACNB2)	ENSP00000478676.1:p.Ser113Cys
ENST00000615785.4:c.911C>G (CACNB2)	ENSP00000480260.1:p.Ser304Cys
ENST00000617363.4:c.1589C>G (CACNB2)	ENSP00000479756.1:p.Ser530Cys
NM_000724.3:c.1661C>G (CACNB2)	NP_000715.2:p.Ser554Cys
NM_001167945.1:c.1628C>G (CACNB2)	NP_001161417.1:p.Ser543Cys
NM_201570.2:c.1682C>G (CACNB2)	NP_963864.1:p.Ser561Cys
NM_201571.3:c.1742C>G (CACNB2)	NP_963865.2:p.Ser581Cys
NM_201572.3:c.1670C>G (CACNB2)	NP_963866.2:p.Ser557Cys
NM_201590.2:c.1664C>G (CACNB2)	NP_963884.2:p.Ser555Cys
NM_201593.2:c.1712C>G (CACNB2)	NP_963887.2:p.Ser571Cys
NM_201596.2:c.1826C>G (CACNB2)	NP_963890.2:p.Ser609Cys
NM_201597.2:c.1754C>G (CACNB2)	NP_963891.1:p.Ser585Cys
XM_005252588.2:c.1568C>G (CACNB2)	XP_005252645.1:p.Ser523Cys
XM_005252591.2:c.986C>G (CACNB2)	XP_005252648.1:p.Ser329Cys
XM_006717502.2:c.1646C>G (CACNB2)	XP_006717565.1:p.Ser549Cys
XM_011519659.1:c.1592C>G (CACNB2)	XP_011517961.1:p.Ser531Cys
XM_011519660.1:c.1547C>G (CACNB2)	XP_011517962.1:p.Ser516Cys
NM_001330060.1:c.1547C>G (CACNB2)	NP_001316989.1:p.Ser516Cys
XM_005252588.4:c.1568C>G (CACNB2)	XP_005252645.1:p.Ser523Cys
XM_005252591.3:c.986C>G (CACNB2)	XP_005252648.1:p.Ser329Cys
XM_006717502.3:c.1646C>G (CACNB2)	XP_006717565.1:p.Ser549Cys
XM_011519659.2:c.1592C>G (CACNB2)	XP_011517961.1:p.Ser531Cys
XM_017016625.1:c.986C>G (CACNB2)	XP_016872114.1:p.Ser329Cys
XR_001747060.1:n.2423+2502G>C (NSUN6)
XR_001747198.1:n.1951C>G (CACNB2)
NM_000724.4:c.1661C>G (CACNB2)	NP_000715.2:p.Ser554Cys
NM_001167945.2:c.1628C>G (CACNB2)	NP_001161417.1:p.Ser543Cys
NM_001330060.2:c.1547C>G (CACNB2)	NP_001316989.1:p.Ser516Cys
NM_201570.3:c.1682C>G (CACNB2)	NP_963864.1:p.Ser561Cys
NM_201571.4:c.1742C>G (CACNB2)	NP_963865.2:p.Ser581Cys
NM_201572.4:c.1670C>G (CACNB2)	NP_963866.2:p.Ser557Cys
NM_201590.3:c.1664C>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser555Cys
NM_201593.3:c.1712C>G (CACNB2)	NP_963887.2:p.Ser571Cys
NM_201596.3:c.1826C>G (CACNB2) MANE Select	NP_963890.2:p.Ser609Cys
NM_201597.3:c.1754C>G (CACNB2)	NP_963891.1:p.Ser585Cys