Canonical Allele Identifier: CA376071689

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539410-T-G
• MyVariant Identifiers: chr10:g.18828339T>G (hg19) ; chr10:g.18539410T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539410T>G , CM000672.2:g.18539410T>G	GRCh38
NC_000010.10:g.18828339T>G , CM000672.1:g.18828339T>G	GRCh37
NC_000010.9:g.18868345T>G	NCBI36
NG_016195.1:g.403734T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1525T>G (CACNB2)	ENSP00000366532.4:p.Ser509Ala
ENST00000377319.9:c.1390T>G (CACNB2)	ENSP00000366536.3:p.Ser464Ala
ENST00000645287.2:c.1513T>G (CACNB2)	ENSP00000496203.1:p.Ser505Ala
ENST00000282343.13:c.1585T>G (CACNB2)	ENSP00000282343.8:p.Ser529Ala
ENST00000324631.13:c.1669T>G (CACNB2) MANE Select	ENSP00000320025.8:p.Ser557Ala
ENST00000377315.5:c.1525T>G (CACNB2)	ENSP00000366532.4:p.Ser509Ala
ENST00000377319.8:c.1390T>G (CACNB2)	ENSP00000366536.3:p.Ser464Ala
ENST00000377329.10:c.1507T>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser503Ala
ENST00000377331.8:c.1294T>G (CACNB2)	ENSP00000366548.4:p.Ser432Ala
ENST00000643096.2:c.1471T>G (CACNB2)	ENSP00000494209.2:p.Ser491Ala
ENST00000645287.1:c.1513T>G (CACNB2)	ENSP00000496203.1:p.Ser505Ala
ENST00000647168.2:c.*810T>G (CACNB2)	ENSP00000495854.2:n.*810T>G
ENST00000650685.1:c.1411T>G (CACNB2)	ENSP00000498460.1:p.Ser471Ala
ENST00000651330.1:c.*943T>G (CACNB2)	ENSP00000498457.1:n.*943T>G
ENST00000651468.1:c.1226T>G (CACNB2)	ENSP00000498352.1:n.1226T>G
ENST00000651928.1:c.*908T>G (CACNB2)	ENSP00000499177.1:n.*908T>G
ENST00000652391.1:c.1489T>G (CACNB2)	ENSP00000498938.1:p.Ser497Ala
ENST00000652478.1:c.*769T>G (CACNB2)	ENSP00000498812.1:n.*769T>G
ENST00000282343.12:c.1585T>G (CACNB2)	ENSP00000282343.8:p.Ser529Ala
ENST00000324631.11:c.1669T>G (CACNB2)	ENSP00000320025.7:p.Ser557Ala
ENST00000352115.10:c.1597T>G (CACNB2)	ENSP00000344474.6:p.Ser533Ala
ENST00000377315.4:c.1525T>G (CACNB2)	ENSP00000366532.4:p.Ser509Ala
ENST00000377319.7:c.1390T>G (CACNB2)	ENSP00000366536.3:p.Ser464Ala
ENST00000377328.5:c.919T>G (CACNB2)	ENSP00000366545.1:p.Ser307Ala
ENST00000377329.8:c.1507T>G (CACNB2)	ENSP00000366546.4:p.Ser503Ala
ENST00000377331.6:c.1513T>G (CACNB2)	ENSP00000366548.2:p.Ser505Ala
ENST00000396576.6:c.1504T>G (CACNB2)	ENSP00000379821.2:p.Ser502Ala
ENST00000612134.4:c.1373T>G (CACNB2)	ENSP00000480563.1:n.1373T>G
ENST00000612743.1:c.181T>G (CACNB2)	ENSP00000478676.1:p.Ser61Ala
ENST00000615785.4:c.754T>G (CACNB2)	ENSP00000480260.1:p.Ser252Ala
ENST00000617363.4:c.1432T>G (CACNB2)	ENSP00000479756.1:p.Ser478Ala
NM_000724.3:c.1504T>G (CACNB2)	NP_000715.2:p.Ser502Ala
NM_001167945.1:c.1471T>G (CACNB2)	NP_001161417.1:p.Ser491Ala
NM_201570.2:c.1525T>G (CACNB2)	NP_963864.1:p.Ser509Ala
NM_201571.3:c.1585T>G (CACNB2)	NP_963865.2:p.Ser529Ala
NM_201572.3:c.1513T>G (CACNB2)	NP_963866.2:p.Ser505Ala
NM_201590.2:c.1507T>G (CACNB2)	NP_963884.2:p.Ser503Ala
NM_201593.2:c.1555T>G (CACNB2)	NP_963887.2:p.Ser519Ala
NM_201596.2:c.1669T>G (CACNB2)	NP_963890.2:p.Ser557Ala
NM_201597.2:c.1597T>G (CACNB2)	NP_963891.1:p.Ser533Ala
XM_005252588.2:c.1411T>G (CACNB2)	XP_005252645.1:p.Ser471Ala
XM_005252591.2:c.829T>G (CACNB2)	XP_005252648.1:p.Ser277Ala
XM_006717502.2:c.1489T>G (CACNB2)	XP_006717565.1:p.Ser497Ala
XM_011519659.1:c.1435T>G (CACNB2)	XP_011517961.1:p.Ser479Ala
XM_011519660.1:c.1390T>G (CACNB2)	XP_011517962.1:p.Ser464Ala
NM_001330060.1:c.1390T>G (CACNB2)	NP_001316989.1:p.Ser464Ala
XM_005252588.4:c.1411T>G (CACNB2)	XP_005252645.1:p.Ser471Ala
XM_005252591.3:c.829T>G (CACNB2)	XP_005252648.1:p.Ser277Ala
XM_006717502.3:c.1489T>G (CACNB2)	XP_006717565.1:p.Ser497Ala
XM_011519659.2:c.1435T>G (CACNB2)	XP_011517961.1:p.Ser479Ala
XM_017016625.1:c.829T>G (CACNB2)	XP_016872114.1:p.Ser277Ala
XR_001747060.1:n.2423+2659A>C (NSUN6)
XR_001747198.1:n.1794T>G (CACNB2)
NM_000724.4:c.1504T>G (CACNB2)	NP_000715.2:p.Ser502Ala
NM_001167945.2:c.1471T>G (CACNB2)	NP_001161417.1:p.Ser491Ala
NM_001330060.2:c.1390T>G (CACNB2)	NP_001316989.1:p.Ser464Ala
NM_201570.3:c.1525T>G (CACNB2)	NP_963864.1:p.Ser509Ala
NM_201571.4:c.1585T>G (CACNB2)	NP_963865.2:p.Ser529Ala
NM_201572.4:c.1513T>G (CACNB2)	NP_963866.2:p.Ser505Ala
NM_201590.3:c.1507T>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser503Ala
NM_201593.3:c.1555T>G (CACNB2)	NP_963887.2:p.Ser519Ala
NM_201596.3:c.1669T>G (CACNB2) MANE Select	NP_963890.2:p.Ser557Ala
NM_201597.3:c.1597T>G (CACNB2)	NP_963891.1:p.Ser533Ala