Canonical Allele Identifier: CA376072167

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539518-G-C
• MyVariant Identifiers: chr10:g.18828447G>C (hg19) ; chr10:g.18539518G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539518G>C , CM000672.2:g.18539518G>C	GRCh38
NC_000010.10:g.18828447G>C , CM000672.1:g.18828447G>C	GRCh37
NC_000010.9:g.18868453G>C	NCBI36
NG_016195.1:g.403842G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1633G>C (CACNB2)	ENSP00000366532.4:p.Glu545Gln
ENST00000377319.9:c.1498G>C (CACNB2)	ENSP00000366536.3:p.Glu500Gln
ENST00000645287.2:c.1621G>C (CACNB2)	ENSP00000496203.1:p.Glu541Gln
ENST00000282343.13:c.1693G>C (CACNB2)	ENSP00000282343.8:p.Glu565Gln
ENST00000324631.13:c.1777G>C (CACNB2) MANE Select	ENSP00000320025.8:p.Glu593Gln
ENST00000377315.5:c.1633G>C (CACNB2)	ENSP00000366532.4:p.Glu545Gln
ENST00000377319.8:c.1498G>C (CACNB2)	ENSP00000366536.3:p.Glu500Gln
ENST00000377329.10:c.1615G>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Glu539Gln
ENST00000377331.8:c.1402G>C (CACNB2)	ENSP00000366548.4:p.Glu468Gln
ENST00000643096.2:c.1579G>C (CACNB2)	ENSP00000494209.2:p.Glu527Gln
ENST00000645287.1:c.1621G>C (CACNB2)	ENSP00000496203.1:p.Glu541Gln
ENST00000647168.2:c.*918G>C (CACNB2)	ENSP00000495854.2:n.*918G>C
ENST00000650685.1:c.1519G>C (CACNB2)	ENSP00000498460.1:p.Glu507Gln
ENST00000651330.1:c.*1051G>C (CACNB2)	ENSP00000498457.1:n.*1051G>C
ENST00000651468.1:c.1334G>C (CACNB2)	ENSP00000498352.1:n.1334G>C
ENST00000651928.1:c.*1016G>C (CACNB2)	ENSP00000499177.1:n.*1016G>C
ENST00000652391.1:c.1597G>C (CACNB2)	ENSP00000498938.1:p.Glu533Gln
ENST00000652478.1:c.*877G>C (CACNB2)	ENSP00000498812.1:n.*877G>C
ENST00000282343.12:c.1693G>C (CACNB2)	ENSP00000282343.8:p.Glu565Gln
ENST00000324631.11:c.1777G>C (CACNB2)	ENSP00000320025.7:p.Glu593Gln
ENST00000352115.10:c.1705G>C (CACNB2)	ENSP00000344474.6:p.Glu569Gln
ENST00000377315.4:c.1633G>C (CACNB2)	ENSP00000366532.4:p.Glu545Gln
ENST00000377319.7:c.1498G>C (CACNB2)	ENSP00000366536.3:p.Glu500Gln
ENST00000377328.5:c.1027G>C (CACNB2)	ENSP00000366545.1:p.Glu343Gln
ENST00000377329.8:c.1615G>C (CACNB2)	ENSP00000366546.4:p.Glu539Gln
ENST00000377331.6:c.1621G>C (CACNB2)	ENSP00000366548.2:p.Glu541Gln
ENST00000396576.6:c.1612G>C (CACNB2)	ENSP00000379821.2:p.Glu538Gln
ENST00000612134.4:c.1481G>C (CACNB2)	ENSP00000480563.1:n.1481G>C
ENST00000612743.1:c.289G>C (CACNB2)	ENSP00000478676.1:p.Glu97Gln
ENST00000615785.4:c.862G>C (CACNB2)	ENSP00000480260.1:p.Glu288Gln
ENST00000617363.4:c.1540G>C (CACNB2)	ENSP00000479756.1:p.Glu514Gln
NM_000724.3:c.1612G>C (CACNB2)	NP_000715.2:p.Glu538Gln
NM_001167945.1:c.1579G>C (CACNB2)	NP_001161417.1:p.Glu527Gln
NM_201570.2:c.1633G>C (CACNB2)	NP_963864.1:p.Glu545Gln
NM_201571.3:c.1693G>C (CACNB2)	NP_963865.2:p.Glu565Gln
NM_201572.3:c.1621G>C (CACNB2)	NP_963866.2:p.Glu541Gln
NM_201590.2:c.1615G>C (CACNB2)	NP_963884.2:p.Glu539Gln
NM_201593.2:c.1663G>C (CACNB2)	NP_963887.2:p.Glu555Gln
NM_201596.2:c.1777G>C (CACNB2)	NP_963890.2:p.Glu593Gln
NM_201597.2:c.1705G>C (CACNB2)	NP_963891.1:p.Glu569Gln
XM_005252588.2:c.1519G>C (CACNB2)	XP_005252645.1:p.Glu507Gln
XM_005252591.2:c.937G>C (CACNB2)	XP_005252648.1:p.Glu313Gln
XM_006717502.2:c.1597G>C (CACNB2)	XP_006717565.1:p.Glu533Gln
XM_011519659.1:c.1543G>C (CACNB2)	XP_011517961.1:p.Glu515Gln
XM_011519660.1:c.1498G>C (CACNB2)	XP_011517962.1:p.Glu500Gln
NM_001330060.1:c.1498G>C (CACNB2)	NP_001316989.1:p.Glu500Gln
XM_005252588.4:c.1519G>C (CACNB2)	XP_005252645.1:p.Glu507Gln
XM_005252591.3:c.937G>C (CACNB2)	XP_005252648.1:p.Glu313Gln
XM_006717502.3:c.1597G>C (CACNB2)	XP_006717565.1:p.Glu533Gln
XM_011519659.2:c.1543G>C (CACNB2)	XP_011517961.1:p.Glu515Gln
XM_017016625.1:c.937G>C (CACNB2)	XP_016872114.1:p.Glu313Gln
XR_001747060.1:n.2423+2551C>G (NSUN6)
XR_001747198.1:n.1902G>C (CACNB2)
NM_000724.4:c.1612G>C (CACNB2)	NP_000715.2:p.Glu538Gln
NM_001167945.2:c.1579G>C (CACNB2)	NP_001161417.1:p.Glu527Gln
NM_001330060.2:c.1498G>C (CACNB2)	NP_001316989.1:p.Glu500Gln
NM_201570.3:c.1633G>C (CACNB2)	NP_963864.1:p.Glu545Gln
NM_201571.4:c.1693G>C (CACNB2)	NP_963865.2:p.Glu565Gln
NM_201572.4:c.1621G>C (CACNB2)	NP_963866.2:p.Glu541Gln
NM_201590.3:c.1615G>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Glu539Gln
NM_201593.3:c.1663G>C (CACNB2)	NP_963887.2:p.Glu555Gln
NM_201596.3:c.1777G>C (CACNB2) MANE Select	NP_963890.2:p.Glu593Gln
NM_201597.3:c.1705G>C (CACNB2)	NP_963891.1:p.Glu569Gln