Canonical Allele Identifier: CA376071654

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539401-A-G
• MyVariant Identifiers: chr10:g.18828330A>G (hg19) ; chr10:g.18539401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539401A>G , CM000672.2:g.18539401A>G	GRCh38
NC_000010.10:g.18828330A>G , CM000672.1:g.18828330A>G	GRCh37
NC_000010.9:g.18868336A>G	NCBI36
NG_016195.1:g.403725A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1516A>G (CACNB2)	ENSP00000366532.4:p.Thr506Ala
ENST00000377319.9:c.1381A>G (CACNB2)	ENSP00000366536.3:p.Thr461Ala
ENST00000645287.2:c.1504A>G (CACNB2)	ENSP00000496203.1:p.Thr502Ala
ENST00000282343.13:c.1576A>G (CACNB2)	ENSP00000282343.8:p.Thr526Ala
ENST00000324631.13:c.1660A>G (CACNB2) MANE Select	ENSP00000320025.8:p.Thr554Ala
ENST00000377315.5:c.1516A>G (CACNB2)	ENSP00000366532.4:p.Thr506Ala
ENST00000377319.8:c.1381A>G (CACNB2)	ENSP00000366536.3:p.Thr461Ala
ENST00000377329.10:c.1498A>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Thr500Ala
ENST00000377331.8:c.1285A>G (CACNB2)	ENSP00000366548.4:p.Thr429Ala
ENST00000643096.2:c.1462A>G (CACNB2)	ENSP00000494209.2:p.Thr488Ala
ENST00000645287.1:c.1504A>G (CACNB2)	ENSP00000496203.1:p.Thr502Ala
ENST00000647168.2:c.*801A>G (CACNB2)	ENSP00000495854.2:n.*801A>G
ENST00000650685.1:c.1402A>G (CACNB2)	ENSP00000498460.1:p.Thr468Ala
ENST00000651330.1:c.*934A>G (CACNB2)	ENSP00000498457.1:n.*934A>G
ENST00000651468.1:c.1217A>G (CACNB2)	ENSP00000498352.1:n.1217A>G
ENST00000651928.1:c.*899A>G (CACNB2)	ENSP00000499177.1:n.*899A>G
ENST00000652391.1:c.1480A>G (CACNB2)	ENSP00000498938.1:p.Thr494Ala
ENST00000652478.1:c.*760A>G (CACNB2)	ENSP00000498812.1:n.*760A>G
ENST00000282343.12:c.1576A>G (CACNB2)	ENSP00000282343.8:p.Thr526Ala
ENST00000324631.11:c.1660A>G (CACNB2)	ENSP00000320025.7:p.Thr554Ala
ENST00000352115.10:c.1588A>G (CACNB2)	ENSP00000344474.6:p.Thr530Ala
ENST00000377315.4:c.1516A>G (CACNB2)	ENSP00000366532.4:p.Thr506Ala
ENST00000377319.7:c.1381A>G (CACNB2)	ENSP00000366536.3:p.Thr461Ala
ENST00000377328.5:c.910A>G (CACNB2)	ENSP00000366545.1:p.Thr304Ala
ENST00000377329.8:c.1498A>G (CACNB2)	ENSP00000366546.4:p.Thr500Ala
ENST00000377331.6:c.1504A>G (CACNB2)	ENSP00000366548.2:p.Thr502Ala
ENST00000396576.6:c.1495A>G (CACNB2)	ENSP00000379821.2:p.Thr499Ala
ENST00000612134.4:c.1364A>G (CACNB2)	ENSP00000480563.1:n.1364A>G
ENST00000612743.1:c.172A>G (CACNB2)	ENSP00000478676.1:p.Thr58Ala
ENST00000615785.4:c.745A>G (CACNB2)	ENSP00000480260.1:p.Thr249Ala
ENST00000617363.4:c.1423A>G (CACNB2)	ENSP00000479756.1:p.Thr475Ala
NM_000724.3:c.1495A>G (CACNB2)	NP_000715.2:p.Thr499Ala
NM_001167945.1:c.1462A>G (CACNB2)	NP_001161417.1:p.Thr488Ala
NM_201570.2:c.1516A>G (CACNB2)	NP_963864.1:p.Thr506Ala
NM_201571.3:c.1576A>G (CACNB2)	NP_963865.2:p.Thr526Ala
NM_201572.3:c.1504A>G (CACNB2)	NP_963866.2:p.Thr502Ala
NM_201590.2:c.1498A>G (CACNB2)	NP_963884.2:p.Thr500Ala
NM_201593.2:c.1546A>G (CACNB2)	NP_963887.2:p.Thr516Ala
NM_201596.2:c.1660A>G (CACNB2)	NP_963890.2:p.Thr554Ala
NM_201597.2:c.1588A>G (CACNB2)	NP_963891.1:p.Thr530Ala
XM_005252588.2:c.1402A>G (CACNB2)	XP_005252645.1:p.Thr468Ala
XM_005252591.2:c.820A>G (CACNB2)	XP_005252648.1:p.Thr274Ala
XM_006717502.2:c.1480A>G (CACNB2)	XP_006717565.1:p.Thr494Ala
XM_011519659.1:c.1426A>G (CACNB2)	XP_011517961.1:p.Thr476Ala
XM_011519660.1:c.1381A>G (CACNB2)	XP_011517962.1:p.Thr461Ala
NM_001330060.1:c.1381A>G (CACNB2)	NP_001316989.1:p.Thr461Ala
XM_005252588.4:c.1402A>G (CACNB2)	XP_005252645.1:p.Thr468Ala
XM_005252591.3:c.820A>G (CACNB2)	XP_005252648.1:p.Thr274Ala
XM_006717502.3:c.1480A>G (CACNB2)	XP_006717565.1:p.Thr494Ala
XM_011519659.2:c.1426A>G (CACNB2)	XP_011517961.1:p.Thr476Ala
XM_017016625.1:c.820A>G (CACNB2)	XP_016872114.1:p.Thr274Ala
XR_001747060.1:n.2423+2668T>C (NSUN6)
XR_001747198.1:n.1785A>G (CACNB2)
NM_000724.4:c.1495A>G (CACNB2)	NP_000715.2:p.Thr499Ala
NM_001167945.2:c.1462A>G (CACNB2)	NP_001161417.1:p.Thr488Ala
NM_001330060.2:c.1381A>G (CACNB2)	NP_001316989.1:p.Thr461Ala
NM_201570.3:c.1516A>G (CACNB2)	NP_963864.1:p.Thr506Ala
NM_201571.4:c.1576A>G (CACNB2)	NP_963865.2:p.Thr526Ala
NM_201572.4:c.1504A>G (CACNB2)	NP_963866.2:p.Thr502Ala
NM_201590.3:c.1498A>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Thr500Ala
NM_201593.3:c.1546A>G (CACNB2)	NP_963887.2:p.Thr516Ala
NM_201596.3:c.1660A>G (CACNB2) MANE Select	NP_963890.2:p.Thr554Ala
NM_201597.3:c.1588A>G (CACNB2)	NP_963891.1:p.Thr530Ala