Canonical Allele Identifier: CA376071904

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs2133335492
• MyVariant Identifiers: chr10:g.18828392T>G (hg19) ; chr10:g.18539463T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539463T>G , CM000672.2:g.18539463T>G	GRCh38
NC_000010.10:g.18828392T>G , CM000672.1:g.18828392T>G	GRCh37
NC_000010.9:g.18868398T>G	NCBI36
NG_016195.1:g.403787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1578T>G (CACNB2)	ENSP00000366532.4:p.Tyr526Ter
ENST00000377319.9:c.1443T>G (CACNB2)	ENSP00000366536.3:p.Tyr481Ter
ENST00000645287.2:c.1566T>G (CACNB2)	ENSP00000496203.1:p.Tyr522Ter
ENST00000282343.13:c.1638T>G (CACNB2)	ENSP00000282343.8:p.Tyr546Ter
ENST00000324631.13:c.1722T>G (CACNB2) MANE Select	ENSP00000320025.8:p.Tyr574Ter
ENST00000377315.5:c.1578T>G (CACNB2)	ENSP00000366532.4:p.Tyr526Ter
ENST00000377319.8:c.1443T>G (CACNB2)	ENSP00000366536.3:p.Tyr481Ter
ENST00000377329.10:c.1560T>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Tyr520Ter
ENST00000377331.8:c.1347T>G (CACNB2)	ENSP00000366548.4:p.Tyr449Ter
ENST00000643096.2:c.1524T>G (CACNB2)	ENSP00000494209.2:p.Tyr508Ter
ENST00000645287.1:c.1566T>G (CACNB2)	ENSP00000496203.1:p.Tyr522Ter
ENST00000647168.2:c.*863T>G (CACNB2)	ENSP00000495854.2:n.*863T>G
ENST00000650685.1:c.1464T>G (CACNB2)	ENSP00000498460.1:p.Tyr488Ter
ENST00000651330.1:c.*996T>G (CACNB2)	ENSP00000498457.1:n.*996T>G
ENST00000651468.1:c.1279T>G (CACNB2)	ENSP00000498352.1:n.1279T>G
ENST00000651928.1:c.*961T>G (CACNB2)	ENSP00000499177.1:n.*961T>G
ENST00000652391.1:c.1542T>G (CACNB2)	ENSP00000498938.1:p.Tyr514Ter
ENST00000652478.1:c.*822T>G (CACNB2)	ENSP00000498812.1:n.*822T>G
ENST00000282343.12:c.1638T>G (CACNB2)	ENSP00000282343.8:p.Tyr546Ter
ENST00000324631.11:c.1722T>G (CACNB2)	ENSP00000320025.7:p.Tyr574Ter
ENST00000352115.10:c.1650T>G (CACNB2)	ENSP00000344474.6:p.Tyr550Ter
ENST00000377315.4:c.1578T>G (CACNB2)	ENSP00000366532.4:p.Tyr526Ter
ENST00000377319.7:c.1443T>G (CACNB2)	ENSP00000366536.3:p.Tyr481Ter
ENST00000377328.5:c.972T>G (CACNB2)	ENSP00000366545.1:p.Tyr324Ter
ENST00000377329.8:c.1560T>G (CACNB2)	ENSP00000366546.4:p.Tyr520Ter
ENST00000377331.6:c.1566T>G (CACNB2)	ENSP00000366548.2:p.Tyr522Ter
ENST00000396576.6:c.1557T>G (CACNB2)	ENSP00000379821.2:p.Tyr519Ter
ENST00000612134.4:c.1426T>G (CACNB2)	ENSP00000480563.1:n.1426T>G
ENST00000612743.1:c.234T>G (CACNB2)	ENSP00000478676.1:p.Tyr78Ter
ENST00000615785.4:c.807T>G (CACNB2)	ENSP00000480260.1:p.Tyr269Ter
ENST00000617363.4:c.1485T>G (CACNB2)	ENSP00000479756.1:p.Tyr495Ter
NM_000724.3:c.1557T>G (CACNB2)	NP_000715.2:p.Tyr519Ter
NM_001167945.1:c.1524T>G (CACNB2)	NP_001161417.1:p.Tyr508Ter
NM_201570.2:c.1578T>G (CACNB2)	NP_963864.1:p.Tyr526Ter
NM_201571.3:c.1638T>G (CACNB2)	NP_963865.2:p.Tyr546Ter
NM_201572.3:c.1566T>G (CACNB2)	NP_963866.2:p.Tyr522Ter
NM_201590.2:c.1560T>G (CACNB2)	NP_963884.2:p.Tyr520Ter
NM_201593.2:c.1608T>G (CACNB2)	NP_963887.2:p.Tyr536Ter
NM_201596.2:c.1722T>G (CACNB2)	NP_963890.2:p.Tyr574Ter
NM_201597.2:c.1650T>G (CACNB2)	NP_963891.1:p.Tyr550Ter
XM_005252588.2:c.1464T>G (CACNB2)	XP_005252645.1:p.Tyr488Ter
XM_005252591.2:c.882T>G (CACNB2)	XP_005252648.1:p.Tyr294Ter
XM_006717502.2:c.1542T>G (CACNB2)	XP_006717565.1:p.Tyr514Ter
XM_011519659.1:c.1488T>G (CACNB2)	XP_011517961.1:p.Tyr496Ter
XM_011519660.1:c.1443T>G (CACNB2)	XP_011517962.1:p.Tyr481Ter
NM_001330060.1:c.1443T>G (CACNB2)	NP_001316989.1:p.Tyr481Ter
XM_005252588.4:c.1464T>G (CACNB2)	XP_005252645.1:p.Tyr488Ter
XM_005252591.3:c.882T>G (CACNB2)	XP_005252648.1:p.Tyr294Ter
XM_006717502.3:c.1542T>G (CACNB2)	XP_006717565.1:p.Tyr514Ter
XM_011519659.2:c.1488T>G (CACNB2)	XP_011517961.1:p.Tyr496Ter
XM_017016625.1:c.882T>G (CACNB2)	XP_016872114.1:p.Tyr294Ter
XR_001747060.1:n.2423+2606A>C (NSUN6)
XR_001747198.1:n.1847T>G (CACNB2)
NM_000724.4:c.1557T>G (CACNB2)	NP_000715.2:p.Tyr519Ter
NM_001167945.2:c.1524T>G (CACNB2)	NP_001161417.1:p.Tyr508Ter
NM_001330060.2:c.1443T>G (CACNB2)	NP_001316989.1:p.Tyr481Ter
NM_201570.3:c.1578T>G (CACNB2)	NP_963864.1:p.Tyr526Ter
NM_201571.4:c.1638T>G (CACNB2)	NP_963865.2:p.Tyr546Ter
NM_201572.4:c.1566T>G (CACNB2)	NP_963866.2:p.Tyr522Ter
NM_201590.3:c.1560T>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Tyr520Ter
NM_201593.3:c.1608T>G (CACNB2)	NP_963887.2:p.Tyr536Ter
NM_201596.3:c.1722T>G (CACNB2) MANE Select	NP_963890.2:p.Tyr574Ter
NM_201597.3:c.1650T>G (CACNB2)	NP_963891.1:p.Tyr550Ter