Canonical Allele Identifier: CA376071627

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539393-G-T
• MyVariant Identifiers: chr10:g.18828322G>T (hg19) ; chr10:g.18539393G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539393G>T , CM000672.2:g.18539393G>T	GRCh38
NC_000010.10:g.18828322G>T , CM000672.1:g.18828322G>T	GRCh37
NC_000010.9:g.18868328G>T	NCBI36
NG_016195.1:g.403717G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1508G>T (CACNB2)	ENSP00000366532.4:p.Arg503Met
ENST00000377319.9:c.1373G>T (CACNB2)	ENSP00000366536.3:p.Arg458Met
ENST00000645287.2:c.1496G>T (CACNB2)	ENSP00000496203.1:p.Arg499Met
ENST00000282343.13:c.1568G>T (CACNB2)	ENSP00000282343.8:p.Arg523Met
ENST00000324631.13:c.1652G>T (CACNB2) MANE Select	ENSP00000320025.8:p.Arg551Met
ENST00000377315.5:c.1508G>T (CACNB2)	ENSP00000366532.4:p.Arg503Met
ENST00000377319.8:c.1373G>T (CACNB2)	ENSP00000366536.3:p.Arg458Met
ENST00000377329.10:c.1490G>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg497Met
ENST00000377331.8:c.1277G>T (CACNB2)	ENSP00000366548.4:p.Arg426Met
ENST00000643096.2:c.1454G>T (CACNB2)	ENSP00000494209.2:p.Arg485Met
ENST00000645287.1:c.1496G>T (CACNB2)	ENSP00000496203.1:p.Arg499Met
ENST00000647168.2:c.*793G>T (CACNB2)	ENSP00000495854.2:n.*793G>T
ENST00000650685.1:c.1394G>T (CACNB2)	ENSP00000498460.1:p.Arg465Met
ENST00000651330.1:c.*926G>T (CACNB2)	ENSP00000498457.1:n.*926G>T
ENST00000651468.1:c.1209G>T (CACNB2)	ENSP00000498352.1:n.1209G>T
ENST00000651928.1:c.*891G>T (CACNB2)	ENSP00000499177.1:n.*891G>T
ENST00000652391.1:c.1472G>T (CACNB2)	ENSP00000498938.1:p.Arg491Met
ENST00000652478.1:c.*752G>T (CACNB2)	ENSP00000498812.1:n.*752G>T
ENST00000282343.12:c.1568G>T (CACNB2)	ENSP00000282343.8:p.Arg523Met
ENST00000324631.11:c.1652G>T (CACNB2)	ENSP00000320025.7:p.Arg551Met
ENST00000352115.10:c.1580G>T (CACNB2)	ENSP00000344474.6:p.Arg527Met
ENST00000377315.4:c.1508G>T (CACNB2)	ENSP00000366532.4:p.Arg503Met
ENST00000377319.7:c.1373G>T (CACNB2)	ENSP00000366536.3:p.Arg458Met
ENST00000377328.5:c.902G>T (CACNB2)	ENSP00000366545.1:p.Arg301Met
ENST00000377329.8:c.1490G>T (CACNB2)	ENSP00000366546.4:p.Arg497Met
ENST00000377331.6:c.1496G>T (CACNB2)	ENSP00000366548.2:p.Arg499Met
ENST00000396576.6:c.1487G>T (CACNB2)	ENSP00000379821.2:p.Arg496Met
ENST00000612134.4:c.1356G>T (CACNB2)	ENSP00000480563.1:n.1356G>T
ENST00000612743.1:c.164G>T (CACNB2)	ENSP00000478676.1:p.Arg55Met
ENST00000615785.4:c.737G>T (CACNB2)	ENSP00000480260.1:p.Arg246Met
ENST00000617363.4:c.1415G>T (CACNB2)	ENSP00000479756.1:p.Arg472Met
NM_000724.3:c.1487G>T (CACNB2)	NP_000715.2:p.Arg496Met
NM_001167945.1:c.1454G>T (CACNB2)	NP_001161417.1:p.Arg485Met
NM_201570.2:c.1508G>T (CACNB2)	NP_963864.1:p.Arg503Met
NM_201571.3:c.1568G>T (CACNB2)	NP_963865.2:p.Arg523Met
NM_201572.3:c.1496G>T (CACNB2)	NP_963866.2:p.Arg499Met
NM_201590.2:c.1490G>T (CACNB2)	NP_963884.2:p.Arg497Met
NM_201593.2:c.1538G>T (CACNB2)	NP_963887.2:p.Arg513Met
NM_201596.2:c.1652G>T (CACNB2)	NP_963890.2:p.Arg551Met
NM_201597.2:c.1580G>T (CACNB2)	NP_963891.1:p.Arg527Met
XM_005252588.2:c.1394G>T (CACNB2)	XP_005252645.1:p.Arg465Met
XM_005252591.2:c.812G>T (CACNB2)	XP_005252648.1:p.Arg271Met
XM_006717502.2:c.1472G>T (CACNB2)	XP_006717565.1:p.Arg491Met
XM_011519659.1:c.1418G>T (CACNB2)	XP_011517961.1:p.Arg473Met
XM_011519660.1:c.1373G>T (CACNB2)	XP_011517962.1:p.Arg458Met
NM_001330060.1:c.1373G>T (CACNB2)	NP_001316989.1:p.Arg458Met
XM_005252588.4:c.1394G>T (CACNB2)	XP_005252645.1:p.Arg465Met
XM_005252591.3:c.812G>T (CACNB2)	XP_005252648.1:p.Arg271Met
XM_006717502.3:c.1472G>T (CACNB2)	XP_006717565.1:p.Arg491Met
XM_011519659.2:c.1418G>T (CACNB2)	XP_011517961.1:p.Arg473Met
XM_017016625.1:c.812G>T (CACNB2)	XP_016872114.1:p.Arg271Met
XR_001747060.1:n.2423+2676C>A (NSUN6)
XR_001747198.1:n.1777G>T (CACNB2)
NM_000724.4:c.1487G>T (CACNB2)	NP_000715.2:p.Arg496Met
NM_001167945.2:c.1454G>T (CACNB2)	NP_001161417.1:p.Arg485Met
NM_001330060.2:c.1373G>T (CACNB2)	NP_001316989.1:p.Arg458Met
NM_201570.3:c.1508G>T (CACNB2)	NP_963864.1:p.Arg503Met
NM_201571.4:c.1568G>T (CACNB2)	NP_963865.2:p.Arg523Met
NM_201572.4:c.1496G>T (CACNB2)	NP_963866.2:p.Arg499Met
NM_201590.3:c.1490G>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg497Met
NM_201593.3:c.1538G>T (CACNB2)	NP_963887.2:p.Arg513Met
NM_201596.3:c.1652G>T (CACNB2) MANE Select	NP_963890.2:p.Arg551Met
NM_201597.3:c.1580G>T (CACNB2)	NP_963891.1:p.Arg527Met