Canonical Allele Identifier: CA376072090

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828434C>G (hg19) ; chr10:g.18539505C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539505C>G , CM000672.2:g.18539505C>G	GRCh38
NC_000010.10:g.18828434C>G , CM000672.1:g.18828434C>G	GRCh37
NC_000010.9:g.18868440C>G	NCBI36
NG_016195.1:g.403829C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1620C>G (CACNB2)	ENSP00000366532.4:p.His540Gln
ENST00000377319.9:c.1485C>G (CACNB2)	ENSP00000366536.3:p.His495Gln
ENST00000645287.2:c.1608C>G (CACNB2)	ENSP00000496203.1:p.His536Gln
ENST00000282343.13:c.1680C>G (CACNB2)	ENSP00000282343.8:p.His560Gln
ENST00000324631.13:c.1764C>G (CACNB2) MANE Select	ENSP00000320025.8:p.His588Gln
ENST00000377315.5:c.1620C>G (CACNB2)	ENSP00000366532.4:p.His540Gln
ENST00000377319.8:c.1485C>G (CACNB2)	ENSP00000366536.3:p.His495Gln
ENST00000377329.10:c.1602C>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His534Gln
ENST00000377331.8:c.1389C>G (CACNB2)	ENSP00000366548.4:p.His463Gln
ENST00000643096.2:c.1566C>G (CACNB2)	ENSP00000494209.2:p.His522Gln
ENST00000645287.1:c.1608C>G (CACNB2)	ENSP00000496203.1:p.His536Gln
ENST00000647168.2:c.*905C>G (CACNB2)	ENSP00000495854.2:n.*905C>G
ENST00000650685.1:c.1506C>G (CACNB2)	ENSP00000498460.1:p.His502Gln
ENST00000651330.1:c.*1038C>G (CACNB2)	ENSP00000498457.1:n.*1038C>G
ENST00000651468.1:c.1321C>G (CACNB2)	ENSP00000498352.1:n.1321C>G
ENST00000651928.1:c.*1003C>G (CACNB2)	ENSP00000499177.1:n.*1003C>G
ENST00000652391.1:c.1584C>G (CACNB2)	ENSP00000498938.1:p.His528Gln
ENST00000652478.1:c.*864C>G (CACNB2)	ENSP00000498812.1:n.*864C>G
ENST00000282343.12:c.1680C>G (CACNB2)	ENSP00000282343.8:p.His560Gln
ENST00000324631.11:c.1764C>G (CACNB2)	ENSP00000320025.7:p.His588Gln
ENST00000352115.10:c.1692C>G (CACNB2)	ENSP00000344474.6:p.His564Gln
ENST00000377315.4:c.1620C>G (CACNB2)	ENSP00000366532.4:p.His540Gln
ENST00000377319.7:c.1485C>G (CACNB2)	ENSP00000366536.3:p.His495Gln
ENST00000377328.5:c.1014C>G (CACNB2)	ENSP00000366545.1:p.His338Gln
ENST00000377329.8:c.1602C>G (CACNB2)	ENSP00000366546.4:p.His534Gln
ENST00000377331.6:c.1608C>G (CACNB2)	ENSP00000366548.2:p.His536Gln
ENST00000396576.6:c.1599C>G (CACNB2)	ENSP00000379821.2:p.His533Gln
ENST00000612134.4:c.1468C>G (CACNB2)	ENSP00000480563.1:n.1468C>G
ENST00000612743.1:c.276C>G (CACNB2)	ENSP00000478676.1:p.His92Gln
ENST00000615785.4:c.849C>G (CACNB2)	ENSP00000480260.1:p.His283Gln
ENST00000617363.4:c.1527C>G (CACNB2)	ENSP00000479756.1:p.His509Gln
NM_000724.3:c.1599C>G (CACNB2)	NP_000715.2:p.His533Gln
NM_001167945.1:c.1566C>G (CACNB2)	NP_001161417.1:p.His522Gln
NM_201570.2:c.1620C>G (CACNB2)	NP_963864.1:p.His540Gln
NM_201571.3:c.1680C>G (CACNB2)	NP_963865.2:p.His560Gln
NM_201572.3:c.1608C>G (CACNB2)	NP_963866.2:p.His536Gln
NM_201590.2:c.1602C>G (CACNB2)	NP_963884.2:p.His534Gln
NM_201593.2:c.1650C>G (CACNB2)	NP_963887.2:p.His550Gln
NM_201596.2:c.1764C>G (CACNB2)	NP_963890.2:p.His588Gln
NM_201597.2:c.1692C>G (CACNB2)	NP_963891.1:p.His564Gln
XM_005252588.2:c.1506C>G (CACNB2)	XP_005252645.1:p.His502Gln
XM_005252591.2:c.924C>G (CACNB2)	XP_005252648.1:p.His308Gln
XM_006717502.2:c.1584C>G (CACNB2)	XP_006717565.1:p.His528Gln
XM_011519659.1:c.1530C>G (CACNB2)	XP_011517961.1:p.His510Gln
XM_011519660.1:c.1485C>G (CACNB2)	XP_011517962.1:p.His495Gln
NM_001330060.1:c.1485C>G (CACNB2)	NP_001316989.1:p.His495Gln
XM_005252588.4:c.1506C>G (CACNB2)	XP_005252645.1:p.His502Gln
XM_005252591.3:c.924C>G (CACNB2)	XP_005252648.1:p.His308Gln
XM_006717502.3:c.1584C>G (CACNB2)	XP_006717565.1:p.His528Gln
XM_011519659.2:c.1530C>G (CACNB2)	XP_011517961.1:p.His510Gln
XM_017016625.1:c.924C>G (CACNB2)	XP_016872114.1:p.His308Gln
XR_001747060.1:n.2423+2564G>C (NSUN6)
XR_001747198.1:n.1889C>G (CACNB2)
NM_000724.4:c.1599C>G (CACNB2)	NP_000715.2:p.His533Gln
NM_001167945.2:c.1566C>G (CACNB2)	NP_001161417.1:p.His522Gln
NM_001330060.2:c.1485C>G (CACNB2)	NP_001316989.1:p.His495Gln
NM_201570.3:c.1620C>G (CACNB2)	NP_963864.1:p.His540Gln
NM_201571.4:c.1680C>G (CACNB2)	NP_963865.2:p.His560Gln
NM_201572.4:c.1608C>G (CACNB2)	NP_963866.2:p.His536Gln
NM_201590.3:c.1602C>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.His534Gln
NM_201593.3:c.1650C>G (CACNB2)	NP_963887.2:p.His550Gln
NM_201596.3:c.1764C>G (CACNB2) MANE Select	NP_963890.2:p.His588Gln
NM_201597.3:c.1692C>G (CACNB2)	NP_963891.1:p.His564Gln