Canonical Allele Identifier: CA376071773

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 1062756
• ClinVar RCV Id: RCV001372508
• dbSNP Id: rs1178558183
• gnomAD v2: 10-18828364-C-T
• gnomAD v4: 10-18539435-C-T
• MyVariant Identifiers: chr10:g.18828364C>T (hg19) ; chr10:g.18539435C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539435C>T , CM000672.2:g.18539435C>T	GRCh38
NC_000010.10:g.18828364C>T , CM000672.1:g.18828364C>T	GRCh37
NC_000010.9:g.18868370C>T	NCBI36
NG_016195.1:g.403759C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1550C>T (CACNB2)	ENSP00000366532.4:p.Ser517Phe
ENST00000377319.9:c.1415C>T (CACNB2)	ENSP00000366536.3:p.Ser472Phe
ENST00000645287.2:c.1538C>T (CACNB2)	ENSP00000496203.1:p.Ser513Phe
ENST00000282343.13:c.1610C>T (CACNB2)	ENSP00000282343.8:p.Ser537Phe
ENST00000324631.13:c.1694C>T (CACNB2) MANE Select	ENSP00000320025.8:p.Ser565Phe
ENST00000377315.5:c.1550C>T (CACNB2)	ENSP00000366532.4:p.Ser517Phe
ENST00000377319.8:c.1415C>T (CACNB2)	ENSP00000366536.3:p.Ser472Phe
ENST00000377329.10:c.1532C>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser511Phe
ENST00000377331.8:c.1319C>T (CACNB2)	ENSP00000366548.4:p.Ser440Phe
ENST00000643096.2:c.1496C>T (CACNB2)	ENSP00000494209.2:p.Ser499Phe
ENST00000645287.1:c.1538C>T (CACNB2)	ENSP00000496203.1:p.Ser513Phe
ENST00000647168.2:c.*835C>T (CACNB2)	ENSP00000495854.2:n.*835C>T
ENST00000650685.1:c.1436C>T (CACNB2)	ENSP00000498460.1:p.Ser479Phe
ENST00000651330.1:c.*968C>T (CACNB2)	ENSP00000498457.1:n.*968C>T
ENST00000651468.1:c.1251C>T (CACNB2)	ENSP00000498352.1:n.1251C>T
ENST00000651928.1:c.*933C>T (CACNB2)	ENSP00000499177.1:n.*933C>T
ENST00000652391.1:c.1514C>T (CACNB2)	ENSP00000498938.1:p.Ser505Phe
ENST00000652478.1:c.*794C>T (CACNB2)	ENSP00000498812.1:n.*794C>T
ENST00000282343.12:c.1610C>T (CACNB2)	ENSP00000282343.8:p.Ser537Phe
ENST00000324631.11:c.1694C>T (CACNB2)	ENSP00000320025.7:p.Ser565Phe
ENST00000352115.10:c.1622C>T (CACNB2)	ENSP00000344474.6:p.Ser541Phe
ENST00000377315.4:c.1550C>T (CACNB2)	ENSP00000366532.4:p.Ser517Phe
ENST00000377319.7:c.1415C>T (CACNB2)	ENSP00000366536.3:p.Ser472Phe
ENST00000377328.5:c.944C>T (CACNB2)	ENSP00000366545.1:p.Ser315Phe
ENST00000377329.8:c.1532C>T (CACNB2)	ENSP00000366546.4:p.Ser511Phe
ENST00000377331.6:c.1538C>T (CACNB2)	ENSP00000366548.2:p.Ser513Phe
ENST00000396576.6:c.1529C>T (CACNB2)	ENSP00000379821.2:p.Ser510Phe
ENST00000612134.4:c.1398C>T (CACNB2)	ENSP00000480563.1:n.1398C>T
ENST00000612743.1:c.206C>T (CACNB2)	ENSP00000478676.1:p.Ser69Phe
ENST00000615785.4:c.779C>T (CACNB2)	ENSP00000480260.1:p.Ser260Phe
ENST00000617363.4:c.1457C>T (CACNB2)	ENSP00000479756.1:p.Ser486Phe
NM_000724.3:c.1529C>T (CACNB2)	NP_000715.2:p.Ser510Phe
NM_001167945.1:c.1496C>T (CACNB2)	NP_001161417.1:p.Ser499Phe
NM_201570.2:c.1550C>T (CACNB2)	NP_963864.1:p.Ser517Phe
NM_201571.3:c.1610C>T (CACNB2)	NP_963865.2:p.Ser537Phe
NM_201572.3:c.1538C>T (CACNB2)	NP_963866.2:p.Ser513Phe
NM_201590.2:c.1532C>T (CACNB2)	NP_963884.2:p.Ser511Phe
NM_201593.2:c.1580C>T (CACNB2)	NP_963887.2:p.Ser527Phe
NM_201596.2:c.1694C>T (CACNB2)	NP_963890.2:p.Ser565Phe
NM_201597.2:c.1622C>T (CACNB2)	NP_963891.1:p.Ser541Phe
XM_005252588.2:c.1436C>T (CACNB2)	XP_005252645.1:p.Ser479Phe
XM_005252591.2:c.854C>T (CACNB2)	XP_005252648.1:p.Ser285Phe
XM_006717502.2:c.1514C>T (CACNB2)	XP_006717565.1:p.Ser505Phe
XM_011519659.1:c.1460C>T (CACNB2)	XP_011517961.1:p.Ser487Phe
XM_011519660.1:c.1415C>T (CACNB2)	XP_011517962.1:p.Ser472Phe
NM_001330060.1:c.1415C>T (CACNB2)	NP_001316989.1:p.Ser472Phe
XM_005252588.4:c.1436C>T (CACNB2)	XP_005252645.1:p.Ser479Phe
XM_005252591.3:c.854C>T (CACNB2)	XP_005252648.1:p.Ser285Phe
XM_006717502.3:c.1514C>T (CACNB2)	XP_006717565.1:p.Ser505Phe
XM_011519659.2:c.1460C>T (CACNB2)	XP_011517961.1:p.Ser487Phe
XM_017016625.1:c.854C>T (CACNB2)	XP_016872114.1:p.Ser285Phe
XR_001747060.1:n.2423+2634G>A (NSUN6)
XR_001747198.1:n.1819C>T (CACNB2)
NM_000724.4:c.1529C>T (CACNB2)	NP_000715.2:p.Ser510Phe
NM_001167945.2:c.1496C>T (CACNB2)	NP_001161417.1:p.Ser499Phe
NM_001330060.2:c.1415C>T (CACNB2)	NP_001316989.1:p.Ser472Phe
NM_201570.3:c.1550C>T (CACNB2)	NP_963864.1:p.Ser517Phe
NM_201571.4:c.1610C>T (CACNB2)	NP_963865.2:p.Ser537Phe
NM_201572.4:c.1538C>T (CACNB2)	NP_963866.2:p.Ser513Phe
NM_201590.3:c.1532C>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser511Phe
NM_201593.3:c.1580C>T (CACNB2)	NP_963887.2:p.Ser527Phe
NM_201596.3:c.1694C>T (CACNB2) MANE Select	NP_963890.2:p.Ser565Phe
NM_201597.3:c.1622C>T (CACNB2)	NP_963891.1:p.Ser541Phe