Canonical Allele Identifier: CA376071951

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828404C>A (hg19) ; chr10:g.18539475C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539475C>A , CM000672.2:g.18539475C>A	GRCh38
NC_000010.10:g.18828404C>A , CM000672.1:g.18828404C>A	GRCh37
NC_000010.9:g.18868410C>A	NCBI36
NG_016195.1:g.403799C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1590C>A (CACNB2)	ENSP00000366532.4:p.His530Gln
ENST00000377319.9:c.1455C>A (CACNB2)	ENSP00000366536.3:p.His485Gln
ENST00000645287.2:c.1578C>A (CACNB2)	ENSP00000496203.1:p.His526Gln
ENST00000282343.13:c.1650C>A (CACNB2)	ENSP00000282343.8:p.His550Gln
ENST00000324631.13:c.1734C>A (CACNB2) MANE Select	ENSP00000320025.8:p.His578Gln
ENST00000377315.5:c.1590C>A (CACNB2)	ENSP00000366532.4:p.His530Gln
ENST00000377319.8:c.1455C>A (CACNB2)	ENSP00000366536.3:p.His485Gln
ENST00000377329.10:c.1572C>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His524Gln
ENST00000377331.8:c.1359C>A (CACNB2)	ENSP00000366548.4:p.His453Gln
ENST00000643096.2:c.1536C>A (CACNB2)	ENSP00000494209.2:p.His512Gln
ENST00000645287.1:c.1578C>A (CACNB2)	ENSP00000496203.1:p.His526Gln
ENST00000647168.2:c.*875C>A (CACNB2)	ENSP00000495854.2:n.*875C>A
ENST00000650685.1:c.1476C>A (CACNB2)	ENSP00000498460.1:p.His492Gln
ENST00000651330.1:c.*1008C>A (CACNB2)	ENSP00000498457.1:n.*1008C>A
ENST00000651468.1:c.1291C>A (CACNB2)	ENSP00000498352.1:n.1291C>A
ENST00000651928.1:c.*973C>A (CACNB2)	ENSP00000499177.1:n.*973C>A
ENST00000652391.1:c.1554C>A (CACNB2)	ENSP00000498938.1:p.His518Gln
ENST00000652478.1:c.*834C>A (CACNB2)	ENSP00000498812.1:n.*834C>A
ENST00000282343.12:c.1650C>A (CACNB2)	ENSP00000282343.8:p.His550Gln
ENST00000324631.11:c.1734C>A (CACNB2)	ENSP00000320025.7:p.His578Gln
ENST00000352115.10:c.1662C>A (CACNB2)	ENSP00000344474.6:p.His554Gln
ENST00000377315.4:c.1590C>A (CACNB2)	ENSP00000366532.4:p.His530Gln
ENST00000377319.7:c.1455C>A (CACNB2)	ENSP00000366536.3:p.His485Gln
ENST00000377328.5:c.984C>A (CACNB2)	ENSP00000366545.1:p.His328Gln
ENST00000377329.8:c.1572C>A (CACNB2)	ENSP00000366546.4:p.His524Gln
ENST00000377331.6:c.1578C>A (CACNB2)	ENSP00000366548.2:p.His526Gln
ENST00000396576.6:c.1569C>A (CACNB2)	ENSP00000379821.2:p.His523Gln
ENST00000612134.4:c.1438C>A (CACNB2)	ENSP00000480563.1:n.1438C>A
ENST00000612743.1:c.246C>A (CACNB2)	ENSP00000478676.1:p.His82Gln
ENST00000615785.4:c.819C>A (CACNB2)	ENSP00000480260.1:p.His273Gln
ENST00000617363.4:c.1497C>A (CACNB2)	ENSP00000479756.1:p.His499Gln
NM_000724.3:c.1569C>A (CACNB2)	NP_000715.2:p.His523Gln
NM_001167945.1:c.1536C>A (CACNB2)	NP_001161417.1:p.His512Gln
NM_201570.2:c.1590C>A (CACNB2)	NP_963864.1:p.His530Gln
NM_201571.3:c.1650C>A (CACNB2)	NP_963865.2:p.His550Gln
NM_201572.3:c.1578C>A (CACNB2)	NP_963866.2:p.His526Gln
NM_201590.2:c.1572C>A (CACNB2)	NP_963884.2:p.His524Gln
NM_201593.2:c.1620C>A (CACNB2)	NP_963887.2:p.His540Gln
NM_201596.2:c.1734C>A (CACNB2)	NP_963890.2:p.His578Gln
NM_201597.2:c.1662C>A (CACNB2)	NP_963891.1:p.His554Gln
XM_005252588.2:c.1476C>A (CACNB2)	XP_005252645.1:p.His492Gln
XM_005252591.2:c.894C>A (CACNB2)	XP_005252648.1:p.His298Gln
XM_006717502.2:c.1554C>A (CACNB2)	XP_006717565.1:p.His518Gln
XM_011519659.1:c.1500C>A (CACNB2)	XP_011517961.1:p.His500Gln
XM_011519660.1:c.1455C>A (CACNB2)	XP_011517962.1:p.His485Gln
NM_001330060.1:c.1455C>A (CACNB2)	NP_001316989.1:p.His485Gln
XM_005252588.4:c.1476C>A (CACNB2)	XP_005252645.1:p.His492Gln
XM_005252591.3:c.894C>A (CACNB2)	XP_005252648.1:p.His298Gln
XM_006717502.3:c.1554C>A (CACNB2)	XP_006717565.1:p.His518Gln
XM_011519659.2:c.1500C>A (CACNB2)	XP_011517961.1:p.His500Gln
XM_017016625.1:c.894C>A (CACNB2)	XP_016872114.1:p.His298Gln
XR_001747060.1:n.2423+2594G>T (NSUN6)
XR_001747198.1:n.1859C>A (CACNB2)
NM_000724.4:c.1569C>A (CACNB2)	NP_000715.2:p.His523Gln
NM_001167945.2:c.1536C>A (CACNB2)	NP_001161417.1:p.His512Gln
NM_001330060.2:c.1455C>A (CACNB2)	NP_001316989.1:p.His485Gln
NM_201570.3:c.1590C>A (CACNB2)	NP_963864.1:p.His530Gln
NM_201571.4:c.1650C>A (CACNB2)	NP_963865.2:p.His550Gln
NM_201572.4:c.1578C>A (CACNB2)	NP_963866.2:p.His526Gln
NM_201590.3:c.1572C>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.His524Gln
NM_201593.3:c.1620C>A (CACNB2)	NP_963887.2:p.His540Gln
NM_201596.3:c.1734C>A (CACNB2) MANE Select	NP_963890.2:p.His578Gln
NM_201597.3:c.1662C>A (CACNB2)	NP_963891.1:p.His554Gln