Canonical Allele Identifier: CA10635451

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539233T>G , CM000672.2:g.18539233T>G	GRCh38
NC_000010.10:g.18828162T>G , CM000672.1:g.18828162T>G	GRCh37
NC_000010.9:g.18868168T>G	NCBI36
NG_016195.1:g.403557T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201596.3:c.1492T>G (CACNB2) MANE Select	NP_963890.2:p.Ser498Ala
ENST00000324631.13:c.1492T>G (CACNB2) MANE Select	ENSP00000320025.8:p.Ser498Ala
NM_201590.3:c.1330T>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser444Ala
ENST00000377329.10:c.1330T>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser444Ala
NM_000724.3:c.1327T>G (CACNB2)	NP_000715.2:p.Ser443Ala
NM_000724.4:c.1327T>G (CACNB2)	NP_000715.2:p.Ser443Ala
NM_001167945.1:c.1294T>G (CACNB2)	NP_001161417.1:p.Ser432Ala
NM_001167945.2:c.1294T>G (CACNB2)	NP_001161417.1:p.Ser432Ala
NM_001330060.1:c.1213T>G (CACNB2)	NP_001316989.1:p.Ser405Ala
NM_001330060.2:c.1213T>G (CACNB2)	NP_001316989.1:p.Ser405Ala
NM_201570.2:c.1348T>G (CACNB2)	NP_963864.1:p.Ser450Ala
NM_201570.3:c.1348T>G (CACNB2)	NP_963864.1:p.Ser450Ala
NM_201571.3:c.1408T>G (CACNB2)	NP_963865.2:p.Ser470Ala
NM_201571.4:c.1408T>G (CACNB2)	NP_963865.2:p.Ser470Ala
NM_201572.3:c.1336T>G (CACNB2)	NP_963866.2:p.Ser446Ala
NM_201572.4:c.1336T>G (CACNB2)	NP_963866.2:p.Ser446Ala
NM_201590.2:c.1330T>G (CACNB2)	NP_963884.2:p.Ser444Ala
NM_201593.2:c.1378T>G (CACNB2)	NP_963887.2:p.Ser460Ala
NM_201593.3:c.1378T>G (CACNB2)	NP_963887.2:p.Ser460Ala
NM_201596.2:c.1492T>G (CACNB2)	NP_963890.2:p.Ser498Ala
NM_201597.2:c.1420T>G (CACNB2)	NP_963891.1:p.Ser474Ala
NM_201597.3:c.1420T>G (CACNB2)	NP_963891.1:p.Ser474Ala
ENST00000282343.12:c.1408T>G (CACNB2)	ENSP00000282343.8:p.Ser470Ala
ENST00000282343.13:c.1408T>G (CACNB2)	ENSP00000282343.8:p.Ser470Ala
ENST00000324631.11:c.1492T>G (CACNB2)	ENSP00000320025.7:p.Ser498Ala
ENST00000352115.10:c.1420T>G (CACNB2)	ENSP00000344474.6:p.Ser474Ala
ENST00000377315.4:c.1348T>G (CACNB2)	ENSP00000366532.4:p.Ser450Ala
ENST00000377315.5:c.1348T>G (CACNB2)	ENSP00000366532.4:p.Ser450Ala
ENST00000377315.6:c.1348T>G (CACNB2)	ENSP00000366532.4:p.Ser450Ala
ENST00000377319.7:c.1213T>G (CACNB2)	ENSP00000366536.3:p.Ser405Ala
ENST00000377319.8:c.1213T>G (CACNB2)	ENSP00000366536.3:p.Ser405Ala
ENST00000377319.9:c.1213T>G (CACNB2)	ENSP00000366536.3:p.Ser405Ala
ENST00000377328.5:c.742T>G (CACNB2)	ENSP00000366545.1:p.Ser248Ala
ENST00000377329.8:c.1330T>G (CACNB2)	ENSP00000366546.4:p.Ser444Ala
ENST00000377331.6:c.1336T>G (CACNB2)	ENSP00000366548.2:p.Ser446Ala
ENST00000377331.8:c.1117T>G (CACNB2)	ENSP00000366548.4:p.Ser373Ala
ENST00000396576.6:c.1327T>G (CACNB2)	ENSP00000379821.2:p.Ser443Ala
ENST00000612134.4:c.1196T>G (CACNB2)	ENSP00000480563.1:n.1196T>G
ENST00000612743.1:c.35-31T>G (CACNB2)	ENSP00000478676.1:n.35-31T>G
ENST00000615785.4:c.577T>G (CACNB2)	ENSP00000480260.1:p.Ser193Ala
ENST00000617363.4:c.1255T>G (CACNB2)	ENSP00000479756.1:p.Ser419Ala
ENST00000643096.2:c.1294T>G (CACNB2)	ENSP00000494209.2:p.Ser432Ala
ENST00000645287.1:c.1336T>G (CACNB2)	ENSP00000496203.1:p.Ser446Ala
ENST00000645287.2:c.1336T>G (CACNB2)	ENSP00000496203.1:p.Ser446Ala
ENST00000647168.2:c.*633T>G (CACNB2)	ENSP00000495854.2:n.*633T>G
ENST00000650685.1:c.1234T>G (CACNB2)	ENSP00000498460.1:p.Ser412Ala
ENST00000651330.1:c.*766T>G (CACNB2)	ENSP00000498457.1:n.*766T>G
ENST00000651468.1:c.1049T>G (CACNB2)	ENSP00000498352.1:n.1049T>G
ENST00000651928.1:c.*731T>G (CACNB2)	ENSP00000499177.1:n.*731T>G
ENST00000652391.1:c.1312T>G (CACNB2)	ENSP00000498938.1:p.Ser438Ala
ENST00000652478.1:c.*592T>G (CACNB2)	ENSP00000498812.1:n.*592T>G
XM_005252588.2:c.1234T>G (CACNB2)	XP_005252645.1:p.Ser412Ala
XM_005252588.4:c.1234T>G (CACNB2)	XP_005252645.1:p.Ser412Ala
XM_005252591.2:c.652T>G (CACNB2)	XP_005252648.1:p.Ser218Ala
XM_005252591.3:c.652T>G (CACNB2)	XP_005252648.1:p.Ser218Ala
XM_006717502.2:c.1312T>G (CACNB2)	XP_006717565.1:p.Ser438Ala
XM_006717502.3:c.1312T>G (CACNB2)	XP_006717565.1:p.Ser438Ala
XM_011519659.1:c.1258T>G (CACNB2)	XP_011517961.1:p.Ser420Ala
XM_011519659.2:c.1258T>G (CACNB2)	XP_011517961.1:p.Ser420Ala
XM_011519660.1:c.1213T>G (CACNB2)	XP_011517962.1:p.Ser405Ala
XM_017016625.1:c.652T>G (CACNB2)	XP_016872114.1:p.Ser218Ala
XR_001747060.1:n.2423+2836A>C (NSUN6)
XR_001747198.1:n.1617T>G (CACNB2)
XR_930717.1:n.33A>C