Canonical Allele Identifier: CA376072196

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs1283506258
• gnomAD v2: 10-18828451-C-G
• gnomAD v4: 10-18539522-C-G
• MyVariant Identifiers: chr10:g.18828451C>G (hg19) ; chr10:g.18539522C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539522C>G , CM000672.2:g.18539522C>G	GRCh38
NC_000010.10:g.18828451C>G , CM000672.1:g.18828451C>G	GRCh37
NC_000010.9:g.18868457C>G	NCBI36
NG_016195.1:g.403846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1637C>G (CACNB2)	ENSP00000366532.4:p.Thr546Ser
ENST00000377319.9:c.1502C>G (CACNB2)	ENSP00000366536.3:p.Thr501Ser
ENST00000645287.2:c.1625C>G (CACNB2)	ENSP00000496203.1:p.Thr542Ser
ENST00000282343.13:c.1697C>G (CACNB2)	ENSP00000282343.8:p.Thr566Ser
ENST00000324631.13:c.1781C>G (CACNB2) MANE Select	ENSP00000320025.8:p.Thr594Ser
ENST00000377315.5:c.1637C>G (CACNB2)	ENSP00000366532.4:p.Thr546Ser
ENST00000377319.8:c.1502C>G (CACNB2)	ENSP00000366536.3:p.Thr501Ser
ENST00000377329.10:c.1619C>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Thr540Ser
ENST00000377331.8:c.1406C>G (CACNB2)	ENSP00000366548.4:p.Thr469Ser
ENST00000643096.2:c.1583C>G (CACNB2)	ENSP00000494209.2:p.Thr528Ser
ENST00000645287.1:c.1625C>G (CACNB2)	ENSP00000496203.1:p.Thr542Ser
ENST00000647168.2:c.*922C>G (CACNB2)	ENSP00000495854.2:n.*922C>G
ENST00000650685.1:c.1523C>G (CACNB2)	ENSP00000498460.1:p.Thr508Ser
ENST00000651330.1:c.*1055C>G (CACNB2)	ENSP00000498457.1:n.*1055C>G
ENST00000651468.1:c.1338C>G (CACNB2)	ENSP00000498352.1:n.1338C>G
ENST00000651928.1:c.*1020C>G (CACNB2)	ENSP00000499177.1:n.*1020C>G
ENST00000652391.1:c.1601C>G (CACNB2)	ENSP00000498938.1:p.Thr534Ser
ENST00000652478.1:c.*881C>G (CACNB2)	ENSP00000498812.1:n.*881C>G
ENST00000282343.12:c.1697C>G (CACNB2)	ENSP00000282343.8:p.Thr566Ser
ENST00000324631.11:c.1781C>G (CACNB2)	ENSP00000320025.7:p.Thr594Ser
ENST00000352115.10:c.1709C>G (CACNB2)	ENSP00000344474.6:p.Thr570Ser
ENST00000377315.4:c.1637C>G (CACNB2)	ENSP00000366532.4:p.Thr546Ser
ENST00000377319.7:c.1502C>G (CACNB2)	ENSP00000366536.3:p.Thr501Ser
ENST00000377328.5:c.1031C>G (CACNB2)	ENSP00000366545.1:p.Thr344Ser
ENST00000377329.8:c.1619C>G (CACNB2)	ENSP00000366546.4:p.Thr540Ser
ENST00000377331.6:c.1625C>G (CACNB2)	ENSP00000366548.2:p.Thr542Ser
ENST00000396576.6:c.1616C>G (CACNB2)	ENSP00000379821.2:p.Thr539Ser
ENST00000612134.4:c.1485C>G (CACNB2)	ENSP00000480563.1:n.1485C>G
ENST00000612743.1:c.293C>G (CACNB2)	ENSP00000478676.1:p.Thr98Ser
ENST00000615785.4:c.866C>G (CACNB2)	ENSP00000480260.1:p.Thr289Ser
ENST00000617363.4:c.1544C>G (CACNB2)	ENSP00000479756.1:p.Thr515Ser
NM_000724.3:c.1616C>G (CACNB2)	NP_000715.2:p.Thr539Ser
NM_001167945.1:c.1583C>G (CACNB2)	NP_001161417.1:p.Thr528Ser
NM_201570.2:c.1637C>G (CACNB2)	NP_963864.1:p.Thr546Ser
NM_201571.3:c.1697C>G (CACNB2)	NP_963865.2:p.Thr566Ser
NM_201572.3:c.1625C>G (CACNB2)	NP_963866.2:p.Thr542Ser
NM_201590.2:c.1619C>G (CACNB2)	NP_963884.2:p.Thr540Ser
NM_201593.2:c.1667C>G (CACNB2)	NP_963887.2:p.Thr556Ser
NM_201596.2:c.1781C>G (CACNB2)	NP_963890.2:p.Thr594Ser
NM_201597.2:c.1709C>G (CACNB2)	NP_963891.1:p.Thr570Ser
XM_005252588.2:c.1523C>G (CACNB2)	XP_005252645.1:p.Thr508Ser
XM_005252591.2:c.941C>G (CACNB2)	XP_005252648.1:p.Thr314Ser
XM_006717502.2:c.1601C>G (CACNB2)	XP_006717565.1:p.Thr534Ser
XM_011519659.1:c.1547C>G (CACNB2)	XP_011517961.1:p.Thr516Ser
XM_011519660.1:c.1502C>G (CACNB2)	XP_011517962.1:p.Thr501Ser
NM_001330060.1:c.1502C>G (CACNB2)	NP_001316989.1:p.Thr501Ser
XM_005252588.4:c.1523C>G (CACNB2)	XP_005252645.1:p.Thr508Ser
XM_005252591.3:c.941C>G (CACNB2)	XP_005252648.1:p.Thr314Ser
XM_006717502.3:c.1601C>G (CACNB2)	XP_006717565.1:p.Thr534Ser
XM_011519659.2:c.1547C>G (CACNB2)	XP_011517961.1:p.Thr516Ser
XM_017016625.1:c.941C>G (CACNB2)	XP_016872114.1:p.Thr314Ser
XR_001747060.1:n.2423+2547G>C (NSUN6)
XR_001747198.1:n.1906C>G (CACNB2)
NM_000724.4:c.1616C>G (CACNB2)	NP_000715.2:p.Thr539Ser
NM_001167945.2:c.1583C>G (CACNB2)	NP_001161417.1:p.Thr528Ser
NM_001330060.2:c.1502C>G (CACNB2)	NP_001316989.1:p.Thr501Ser
NM_201570.3:c.1637C>G (CACNB2)	NP_963864.1:p.Thr546Ser
NM_201571.4:c.1697C>G (CACNB2)	NP_963865.2:p.Thr566Ser
NM_201572.4:c.1625C>G (CACNB2)	NP_963866.2:p.Thr542Ser
NM_201590.3:c.1619C>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Thr540Ser
NM_201593.3:c.1667C>G (CACNB2)	NP_963887.2:p.Thr556Ser
NM_201596.3:c.1781C>G (CACNB2) MANE Select	NP_963890.2:p.Thr594Ser
NM_201597.3:c.1709C>G (CACNB2)	NP_963891.1:p.Thr570Ser