Canonical Allele Identifier: CA376071775

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539435-C-G
• MyVariant Identifiers: chr10:g.18828364C>G (hg19) ; chr10:g.18539435C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1550C>G (CACNB2)	ENSP00000366532.4:p.Ser517Cys
ENST00000377319.9:c.1415C>G (CACNB2)	ENSP00000366536.3:p.Ser472Cys
ENST00000645287.2:c.1538C>G (CACNB2)	ENSP00000496203.1:p.Ser513Cys
ENST00000282343.13:c.1610C>G (CACNB2)	ENSP00000282343.8:p.Ser537Cys
ENST00000324631.13:c.1694C>G (CACNB2) MANE Select	ENSP00000320025.8:p.Ser565Cys
ENST00000377315.5:c.1550C>G (CACNB2)	ENSP00000366532.4:p.Ser517Cys
ENST00000377319.8:c.1415C>G (CACNB2)	ENSP00000366536.3:p.Ser472Cys
ENST00000377329.10:c.1532C>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser511Cys
ENST00000377331.8:c.1319C>G (CACNB2)	ENSP00000366548.4:p.Ser440Cys
ENST00000643096.2:c.1496C>G (CACNB2)	ENSP00000494209.2:p.Ser499Cys
ENST00000645287.1:c.1538C>G (CACNB2)	ENSP00000496203.1:p.Ser513Cys
ENST00000647168.2:c.*835C>G (CACNB2)	ENSP00000495854.2:n.*835C>G
ENST00000650685.1:c.1436C>G (CACNB2)	ENSP00000498460.1:p.Ser479Cys
ENST00000651330.1:c.*968C>G (CACNB2)	ENSP00000498457.1:n.*968C>G
ENST00000651468.1:c.1251C>G (CACNB2)	ENSP00000498352.1:n.1251C>G
ENST00000651928.1:c.*933C>G (CACNB2)	ENSP00000499177.1:n.*933C>G
ENST00000652391.1:c.1514C>G (CACNB2)	ENSP00000498938.1:p.Ser505Cys
ENST00000652478.1:c.*794C>G (CACNB2)	ENSP00000498812.1:n.*794C>G
ENST00000282343.12:c.1610C>G (CACNB2)	ENSP00000282343.8:p.Ser537Cys
ENST00000324631.11:c.1694C>G (CACNB2)	ENSP00000320025.7:p.Ser565Cys
ENST00000352115.10:c.1622C>G (CACNB2)	ENSP00000344474.6:p.Ser541Cys
ENST00000377315.4:c.1550C>G (CACNB2)	ENSP00000366532.4:p.Ser517Cys
ENST00000377319.7:c.1415C>G (CACNB2)	ENSP00000366536.3:p.Ser472Cys
ENST00000377328.5:c.944C>G (CACNB2)	ENSP00000366545.1:p.Ser315Cys
ENST00000377329.8:c.1532C>G (CACNB2)	ENSP00000366546.4:p.Ser511Cys
ENST00000377331.6:c.1538C>G (CACNB2)	ENSP00000366548.2:p.Ser513Cys
ENST00000396576.6:c.1529C>G (CACNB2)	ENSP00000379821.2:p.Ser510Cys
ENST00000612134.4:c.1398C>G (CACNB2)	ENSP00000480563.1:n.1398C>G
ENST00000612743.1:c.206C>G (CACNB2)	ENSP00000478676.1:p.Ser69Cys
ENST00000615785.4:c.779C>G (CACNB2)	ENSP00000480260.1:p.Ser260Cys
ENST00000617363.4:c.1457C>G (CACNB2)	ENSP00000479756.1:p.Ser486Cys
NM_000724.3:c.1529C>G (CACNB2)	NP_000715.2:p.Ser510Cys
NM_001167945.1:c.1496C>G (CACNB2)	NP_001161417.1:p.Ser499Cys
NM_201570.2:c.1550C>G (CACNB2)	NP_963864.1:p.Ser517Cys
NM_201571.3:c.1610C>G (CACNB2)	NP_963865.2:p.Ser537Cys
NM_201572.3:c.1538C>G (CACNB2)	NP_963866.2:p.Ser513Cys
NM_201590.2:c.1532C>G (CACNB2)	NP_963884.2:p.Ser511Cys
NM_201593.2:c.1580C>G (CACNB2)	NP_963887.2:p.Ser527Cys
NM_201596.2:c.1694C>G (CACNB2)	NP_963890.2:p.Ser565Cys
NM_201597.2:c.1622C>G (CACNB2)	NP_963891.1:p.Ser541Cys
XM_005252588.2:c.1436C>G (CACNB2)	XP_005252645.1:p.Ser479Cys
XM_005252591.2:c.854C>G (CACNB2)	XP_005252648.1:p.Ser285Cys
XM_006717502.2:c.1514C>G (CACNB2)	XP_006717565.1:p.Ser505Cys
XM_011519659.1:c.1460C>G (CACNB2)	XP_011517961.1:p.Ser487Cys
XM_011519660.1:c.1415C>G (CACNB2)	XP_011517962.1:p.Ser472Cys
NM_001330060.1:c.1415C>G (CACNB2)	NP_001316989.1:p.Ser472Cys
XM_005252588.4:c.1436C>G (CACNB2)	XP_005252645.1:p.Ser479Cys
XM_005252591.3:c.854C>G (CACNB2)	XP_005252648.1:p.Ser285Cys
XM_006717502.3:c.1514C>G (CACNB2)	XP_006717565.1:p.Ser505Cys
XM_011519659.2:c.1460C>G (CACNB2)	XP_011517961.1:p.Ser487Cys
XM_017016625.1:c.854C>G (CACNB2)	XP_016872114.1:p.Ser285Cys
XR_001747060.1:n.2423+2634G>C (NSUN6)
XR_001747198.1:n.1819C>G (CACNB2)
NM_000724.4:c.1529C>G (CACNB2)	NP_000715.2:p.Ser510Cys
NM_001167945.2:c.1496C>G (CACNB2)	NP_001161417.1:p.Ser499Cys
NM_001330060.2:c.1415C>G (CACNB2)	NP_001316989.1:p.Ser472Cys
NM_201570.3:c.1550C>G (CACNB2)	NP_963864.1:p.Ser517Cys
NM_201571.4:c.1610C>G (CACNB2)	NP_963865.2:p.Ser537Cys
NM_201572.4:c.1538C>G (CACNB2)	NP_963866.2:p.Ser513Cys
NM_201590.3:c.1532C>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser511Cys
NM_201593.3:c.1580C>G (CACNB2)	NP_963887.2:p.Ser527Cys
NM_201596.3:c.1694C>G (CACNB2) MANE Select	NP_963890.2:p.Ser565Cys
NM_201597.3:c.1622C>G (CACNB2)	NP_963891.1:p.Ser541Cys