Canonical Allele Identifier: CA5430145

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs776643534
• ExAC: 10:18828390 T / G
• gnomAD v2: 10-18828390-T-G
• gnomAD v4: 10-18539461-T-G
• MyVariant Identifiers: chr10:g.18828390T>G (hg19) ; chr10:g.18539461T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539461T>G , CM000672.2:g.18539461T>G	GRCh38
NC_000010.10:g.18828390T>G , CM000672.1:g.18828390T>G	GRCh37
NC_000010.9:g.18868396T>G	NCBI36
NG_016195.1:g.403785T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1576T>G (CACNB2)	ENSP00000366532.4:p.Tyr526Asp
ENST00000377319.9:c.1441T>G (CACNB2)	ENSP00000366536.3:p.Tyr481Asp
ENST00000645287.2:c.1564T>G (CACNB2)	ENSP00000496203.1:p.Tyr522Asp
ENST00000282343.13:c.1636T>G (CACNB2)	ENSP00000282343.8:p.Tyr546Asp
ENST00000324631.13:c.1720T>G (CACNB2) MANE Select	ENSP00000320025.8:p.Tyr574Asp
ENST00000377315.5:c.1576T>G (CACNB2)	ENSP00000366532.4:p.Tyr526Asp
ENST00000377319.8:c.1441T>G (CACNB2)	ENSP00000366536.3:p.Tyr481Asp
ENST00000377329.10:c.1558T>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Tyr520Asp
ENST00000377331.8:c.1345T>G (CACNB2)	ENSP00000366548.4:p.Tyr449Asp
ENST00000643096.2:c.1522T>G (CACNB2)	ENSP00000494209.2:p.Tyr508Asp
ENST00000645287.1:c.1564T>G (CACNB2)	ENSP00000496203.1:p.Tyr522Asp
ENST00000647168.2:c.*861T>G (CACNB2)	ENSP00000495854.2:n.*861T>G
ENST00000650685.1:c.1462T>G (CACNB2)	ENSP00000498460.1:p.Tyr488Asp
ENST00000651330.1:c.*994T>G (CACNB2)	ENSP00000498457.1:n.*994T>G
ENST00000651468.1:c.1277T>G (CACNB2)	ENSP00000498352.1:n.1277T>G
ENST00000651928.1:c.*959T>G (CACNB2)	ENSP00000499177.1:n.*959T>G
ENST00000652391.1:c.1540T>G (CACNB2)	ENSP00000498938.1:p.Tyr514Asp
ENST00000652478.1:c.*820T>G (CACNB2)	ENSP00000498812.1:n.*820T>G
ENST00000282343.12:c.1636T>G (CACNB2)	ENSP00000282343.8:p.Tyr546Asp
ENST00000324631.11:c.1720T>G (CACNB2)	ENSP00000320025.7:p.Tyr574Asp
ENST00000352115.10:c.1648T>G (CACNB2)	ENSP00000344474.6:p.Tyr550Asp
ENST00000377315.4:c.1576T>G (CACNB2)	ENSP00000366532.4:p.Tyr526Asp
ENST00000377319.7:c.1441T>G (CACNB2)	ENSP00000366536.3:p.Tyr481Asp
ENST00000377328.5:c.970T>G (CACNB2)	ENSP00000366545.1:p.Tyr324Asp
ENST00000377329.8:c.1558T>G (CACNB2)	ENSP00000366546.4:p.Tyr520Asp
ENST00000377331.6:c.1564T>G (CACNB2)	ENSP00000366548.2:p.Tyr522Asp
ENST00000396576.6:c.1555T>G (CACNB2)	ENSP00000379821.2:p.Tyr519Asp
ENST00000612134.4:c.1424T>G (CACNB2)	ENSP00000480563.1:n.1424T>G
ENST00000612743.1:c.232T>G (CACNB2)	ENSP00000478676.1:p.Tyr78Asp
ENST00000615785.4:c.805T>G (CACNB2)	ENSP00000480260.1:p.Tyr269Asp
ENST00000617363.4:c.1483T>G (CACNB2)	ENSP00000479756.1:p.Tyr495Asp
NM_000724.3:c.1555T>G (CACNB2)	NP_000715.2:p.Tyr519Asp
NM_001167945.1:c.1522T>G (CACNB2)	NP_001161417.1:p.Tyr508Asp
NM_201570.2:c.1576T>G (CACNB2)	NP_963864.1:p.Tyr526Asp
NM_201571.3:c.1636T>G (CACNB2)	NP_963865.2:p.Tyr546Asp
NM_201572.3:c.1564T>G (CACNB2)	NP_963866.2:p.Tyr522Asp
NM_201590.2:c.1558T>G (CACNB2)	NP_963884.2:p.Tyr520Asp
NM_201593.2:c.1606T>G (CACNB2)	NP_963887.2:p.Tyr536Asp
NM_201596.2:c.1720T>G (CACNB2)	NP_963890.2:p.Tyr574Asp
NM_201597.2:c.1648T>G (CACNB2)	NP_963891.1:p.Tyr550Asp
XM_005252588.2:c.1462T>G (CACNB2)	XP_005252645.1:p.Tyr488Asp
XM_005252591.2:c.880T>G (CACNB2)	XP_005252648.1:p.Tyr294Asp
XM_006717502.2:c.1540T>G (CACNB2)	XP_006717565.1:p.Tyr514Asp
XM_011519659.1:c.1486T>G (CACNB2)	XP_011517961.1:p.Tyr496Asp
XM_011519660.1:c.1441T>G (CACNB2)	XP_011517962.1:p.Tyr481Asp
NM_001330060.1:c.1441T>G (CACNB2)	NP_001316989.1:p.Tyr481Asp
XM_005252588.4:c.1462T>G (CACNB2)	XP_005252645.1:p.Tyr488Asp
XM_005252591.3:c.880T>G (CACNB2)	XP_005252648.1:p.Tyr294Asp
XM_006717502.3:c.1540T>G (CACNB2)	XP_006717565.1:p.Tyr514Asp
XM_011519659.2:c.1486T>G (CACNB2)	XP_011517961.1:p.Tyr496Asp
XM_017016625.1:c.880T>G (CACNB2)	XP_016872114.1:p.Tyr294Asp
XR_001747060.1:n.2423+2608A>C (NSUN6)
XR_001747198.1:n.1845T>G (CACNB2)
NM_000724.4:c.1555T>G (CACNB2)	NP_000715.2:p.Tyr519Asp
NM_001167945.2:c.1522T>G (CACNB2)	NP_001161417.1:p.Tyr508Asp
NM_001330060.2:c.1441T>G (CACNB2)	NP_001316989.1:p.Tyr481Asp
NM_201570.3:c.1576T>G (CACNB2)	NP_963864.1:p.Tyr526Asp
NM_201571.4:c.1636T>G (CACNB2)	NP_963865.2:p.Tyr546Asp
NM_201572.4:c.1564T>G (CACNB2)	NP_963866.2:p.Tyr522Asp
NM_201590.3:c.1558T>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Tyr520Asp
NM_201593.3:c.1606T>G (CACNB2)	NP_963887.2:p.Tyr536Asp
NM_201596.3:c.1720T>G (CACNB2) MANE Select	NP_963890.2:p.Tyr574Asp
NM_201597.3:c.1648T>G (CACNB2)	NP_963891.1:p.Tyr550Asp