Canonical Allele Identifier: CA376071620

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539392-A-G
• MyVariant Identifiers: chr10:g.18828321A>G (hg19) ; chr10:g.18539392A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539392A>G , CM000672.2:g.18539392A>G	GRCh38
NC_000010.10:g.18828321A>G , CM000672.1:g.18828321A>G	GRCh37
NC_000010.9:g.18868327A>G	NCBI36
NG_016195.1:g.403716A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1507A>G (CACNB2)	ENSP00000366532.4:p.Arg503Gly
ENST00000377319.9:c.1372A>G (CACNB2)	ENSP00000366536.3:p.Arg458Gly
ENST00000645287.2:c.1495A>G (CACNB2)	ENSP00000496203.1:p.Arg499Gly
ENST00000282343.13:c.1567A>G (CACNB2)	ENSP00000282343.8:p.Arg523Gly
ENST00000324631.13:c.1651A>G (CACNB2) MANE Select	ENSP00000320025.8:p.Arg551Gly
ENST00000377315.5:c.1507A>G (CACNB2)	ENSP00000366532.4:p.Arg503Gly
ENST00000377319.8:c.1372A>G (CACNB2)	ENSP00000366536.3:p.Arg458Gly
ENST00000377329.10:c.1489A>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg497Gly
ENST00000377331.8:c.1276A>G (CACNB2)	ENSP00000366548.4:p.Arg426Gly
ENST00000643096.2:c.1453A>G (CACNB2)	ENSP00000494209.2:p.Arg485Gly
ENST00000645287.1:c.1495A>G (CACNB2)	ENSP00000496203.1:p.Arg499Gly
ENST00000647168.2:c.*792A>G (CACNB2)	ENSP00000495854.2:n.*792A>G
ENST00000650685.1:c.1393A>G (CACNB2)	ENSP00000498460.1:p.Arg465Gly
ENST00000651330.1:c.*925A>G (CACNB2)	ENSP00000498457.1:n.*925A>G
ENST00000651468.1:c.1208A>G (CACNB2)	ENSP00000498352.1:n.1208A>G
ENST00000651928.1:c.*890A>G (CACNB2)	ENSP00000499177.1:n.*890A>G
ENST00000652391.1:c.1471A>G (CACNB2)	ENSP00000498938.1:p.Arg491Gly
ENST00000652478.1:c.*751A>G (CACNB2)	ENSP00000498812.1:n.*751A>G
ENST00000282343.12:c.1567A>G (CACNB2)	ENSP00000282343.8:p.Arg523Gly
ENST00000324631.11:c.1651A>G (CACNB2)	ENSP00000320025.7:p.Arg551Gly
ENST00000352115.10:c.1579A>G (CACNB2)	ENSP00000344474.6:p.Arg527Gly
ENST00000377315.4:c.1507A>G (CACNB2)	ENSP00000366532.4:p.Arg503Gly
ENST00000377319.7:c.1372A>G (CACNB2)	ENSP00000366536.3:p.Arg458Gly
ENST00000377328.5:c.901A>G (CACNB2)	ENSP00000366545.1:p.Arg301Gly
ENST00000377329.8:c.1489A>G (CACNB2)	ENSP00000366546.4:p.Arg497Gly
ENST00000377331.6:c.1495A>G (CACNB2)	ENSP00000366548.2:p.Arg499Gly
ENST00000396576.6:c.1486A>G (CACNB2)	ENSP00000379821.2:p.Arg496Gly
ENST00000612134.4:c.1355A>G (CACNB2)	ENSP00000480563.1:n.1355A>G
ENST00000612743.1:c.163A>G (CACNB2)	ENSP00000478676.1:p.Arg55Gly
ENST00000615785.4:c.736A>G (CACNB2)	ENSP00000480260.1:p.Arg246Gly
ENST00000617363.4:c.1414A>G (CACNB2)	ENSP00000479756.1:p.Arg472Gly
NM_000724.3:c.1486A>G (CACNB2)	NP_000715.2:p.Arg496Gly
NM_001167945.1:c.1453A>G (CACNB2)	NP_001161417.1:p.Arg485Gly
NM_201570.2:c.1507A>G (CACNB2)	NP_963864.1:p.Arg503Gly
NM_201571.3:c.1567A>G (CACNB2)	NP_963865.2:p.Arg523Gly
NM_201572.3:c.1495A>G (CACNB2)	NP_963866.2:p.Arg499Gly
NM_201590.2:c.1489A>G (CACNB2)	NP_963884.2:p.Arg497Gly
NM_201593.2:c.1537A>G (CACNB2)	NP_963887.2:p.Arg513Gly
NM_201596.2:c.1651A>G (CACNB2)	NP_963890.2:p.Arg551Gly
NM_201597.2:c.1579A>G (CACNB2)	NP_963891.1:p.Arg527Gly
XM_005252588.2:c.1393A>G (CACNB2)	XP_005252645.1:p.Arg465Gly
XM_005252591.2:c.811A>G (CACNB2)	XP_005252648.1:p.Arg271Gly
XM_006717502.2:c.1471A>G (CACNB2)	XP_006717565.1:p.Arg491Gly
XM_011519659.1:c.1417A>G (CACNB2)	XP_011517961.1:p.Arg473Gly
XM_011519660.1:c.1372A>G (CACNB2)	XP_011517962.1:p.Arg458Gly
NM_001330060.1:c.1372A>G (CACNB2)	NP_001316989.1:p.Arg458Gly
XM_005252588.4:c.1393A>G (CACNB2)	XP_005252645.1:p.Arg465Gly
XM_005252591.3:c.811A>G (CACNB2)	XP_005252648.1:p.Arg271Gly
XM_006717502.3:c.1471A>G (CACNB2)	XP_006717565.1:p.Arg491Gly
XM_011519659.2:c.1417A>G (CACNB2)	XP_011517961.1:p.Arg473Gly
XM_017016625.1:c.811A>G (CACNB2)	XP_016872114.1:p.Arg271Gly
XR_001747060.1:n.2423+2677T>C (NSUN6)
XR_001747198.1:n.1776A>G (CACNB2)
NM_000724.4:c.1486A>G (CACNB2)	NP_000715.2:p.Arg496Gly
NM_001167945.2:c.1453A>G (CACNB2)	NP_001161417.1:p.Arg485Gly
NM_001330060.2:c.1372A>G (CACNB2)	NP_001316989.1:p.Arg458Gly
NM_201570.3:c.1507A>G (CACNB2)	NP_963864.1:p.Arg503Gly
NM_201571.4:c.1567A>G (CACNB2)	NP_963865.2:p.Arg523Gly
NM_201572.4:c.1495A>G (CACNB2)	NP_963866.2:p.Arg499Gly
NM_201590.3:c.1489A>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg497Gly
NM_201593.3:c.1537A>G (CACNB2)	NP_963887.2:p.Arg513Gly
NM_201596.3:c.1651A>G (CACNB2) MANE Select	NP_963890.2:p.Arg551Gly
NM_201597.3:c.1579A>G (CACNB2)	NP_963891.1:p.Arg527Gly