Canonical Allele Identifier: CA203167185

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs906587494
• gnomAD v3: 10-18539357-A-G
• gnomAD v4: 10-18539357-A-G
• MyVariant Identifiers: chr10:g.18828286A>G (hg19) ; chr10:g.18539357A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539357A>G , CM000672.2:g.18539357A>G	GRCh38
NC_000010.10:g.18828286A>G , CM000672.1:g.18828286A>G	GRCh37
NC_000010.9:g.18868292A>G	NCBI36
NG_016195.1:g.403681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1472A>G (CACNB2)	ENSP00000366532.4:p.His491Arg
ENST00000377319.9:c.1337A>G (CACNB2)	ENSP00000366536.3:p.His446Arg
ENST00000645287.2:c.1460A>G (CACNB2)	ENSP00000496203.1:p.His487Arg
ENST00000282343.13:c.1532A>G (CACNB2)	ENSP00000282343.8:p.His511Arg
ENST00000324631.13:c.1616A>G (CACNB2) MANE Select	ENSP00000320025.8:p.His539Arg
ENST00000377315.5:c.1472A>G (CACNB2)	ENSP00000366532.4:p.His491Arg
ENST00000377319.8:c.1337A>G (CACNB2)	ENSP00000366536.3:p.His446Arg
ENST00000377329.10:c.1454A>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His485Arg
ENST00000377331.8:c.1241A>G (CACNB2)	ENSP00000366548.4:p.His414Arg
ENST00000643096.2:c.1418A>G (CACNB2)	ENSP00000494209.2:p.His473Arg
ENST00000645287.1:c.1460A>G (CACNB2)	ENSP00000496203.1:p.His487Arg
ENST00000647168.2:c.*757A>G (CACNB2)	ENSP00000495854.2:n.*757A>G
ENST00000650685.1:c.1358A>G (CACNB2)	ENSP00000498460.1:p.His453Arg
ENST00000651330.1:c.*890A>G (CACNB2)	ENSP00000498457.1:n.*890A>G
ENST00000651468.1:c.1173A>G (CACNB2)	ENSP00000498352.1:n.1173A>G
ENST00000651928.1:c.*855A>G (CACNB2)	ENSP00000499177.1:n.*855A>G
ENST00000652391.1:c.1436A>G (CACNB2)	ENSP00000498938.1:p.His479Arg
ENST00000652478.1:c.*716A>G (CACNB2)	ENSP00000498812.1:n.*716A>G
ENST00000282343.12:c.1532A>G (CACNB2)	ENSP00000282343.8:p.His511Arg
ENST00000324631.11:c.1616A>G (CACNB2)	ENSP00000320025.7:p.His539Arg
ENST00000352115.10:c.1544A>G (CACNB2)	ENSP00000344474.6:p.His515Arg
ENST00000377315.4:c.1472A>G (CACNB2)	ENSP00000366532.4:p.His491Arg
ENST00000377319.7:c.1337A>G (CACNB2)	ENSP00000366536.3:p.His446Arg
ENST00000377328.5:c.866A>G (CACNB2)	ENSP00000366545.1:p.His289Arg
ENST00000377329.8:c.1454A>G (CACNB2)	ENSP00000366546.4:p.His485Arg
ENST00000377331.6:c.1460A>G (CACNB2)	ENSP00000366548.2:p.His487Arg
ENST00000396576.6:c.1451A>G (CACNB2)	ENSP00000379821.2:p.His484Arg
ENST00000612134.4:c.1320A>G (CACNB2)	ENSP00000480563.1:n.1320A>G
ENST00000612743.1:c.128A>G (CACNB2)	ENSP00000478676.1:p.His43Arg
ENST00000615785.4:c.701A>G (CACNB2)	ENSP00000480260.1:p.His234Arg
ENST00000617363.4:c.1379A>G (CACNB2)	ENSP00000479756.1:p.His460Arg
NM_000724.3:c.1451A>G (CACNB2)	NP_000715.2:p.His484Arg
NM_001167945.1:c.1418A>G (CACNB2)	NP_001161417.1:p.His473Arg
NM_201570.2:c.1472A>G (CACNB2)	NP_963864.1:p.His491Arg
NM_201571.3:c.1532A>G (CACNB2)	NP_963865.2:p.His511Arg
NM_201572.3:c.1460A>G (CACNB2)	NP_963866.2:p.His487Arg
NM_201590.2:c.1454A>G (CACNB2)	NP_963884.2:p.His485Arg
NM_201593.2:c.1502A>G (CACNB2)	NP_963887.2:p.His501Arg
NM_201596.2:c.1616A>G (CACNB2)	NP_963890.2:p.His539Arg
NM_201597.2:c.1544A>G (CACNB2)	NP_963891.1:p.His515Arg
XM_005252588.2:c.1358A>G (CACNB2)	XP_005252645.1:p.His453Arg
XM_005252591.2:c.776A>G (CACNB2)	XP_005252648.1:p.His259Arg
XM_006717502.2:c.1436A>G (CACNB2)	XP_006717565.1:p.His479Arg
XM_011519659.1:c.1382A>G (CACNB2)	XP_011517961.1:p.His461Arg
XM_011519660.1:c.1337A>G (CACNB2)	XP_011517962.1:p.His446Arg
NM_001330060.1:c.1337A>G (CACNB2)	NP_001316989.1:p.His446Arg
XM_005252588.4:c.1358A>G (CACNB2)	XP_005252645.1:p.His453Arg
XM_005252591.3:c.776A>G (CACNB2)	XP_005252648.1:p.His259Arg
XM_006717502.3:c.1436A>G (CACNB2)	XP_006717565.1:p.His479Arg
XM_011519659.2:c.1382A>G (CACNB2)	XP_011517961.1:p.His461Arg
XM_017016625.1:c.776A>G (CACNB2)	XP_016872114.1:p.His259Arg
XR_001747060.1:n.2423+2712T>C (NSUN6)
XR_001747198.1:n.1741A>G (CACNB2)
NM_000724.4:c.1451A>G (CACNB2)	NP_000715.2:p.His484Arg
NM_001167945.2:c.1418A>G (CACNB2)	NP_001161417.1:p.His473Arg
NM_001330060.2:c.1337A>G (CACNB2)	NP_001316989.1:p.His446Arg
NM_201570.3:c.1472A>G (CACNB2)	NP_963864.1:p.His491Arg
NM_201571.4:c.1532A>G (CACNB2)	NP_963865.2:p.His511Arg
NM_201572.4:c.1460A>G (CACNB2)	NP_963866.2:p.His487Arg
NM_201590.3:c.1454A>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.His485Arg
NM_201593.3:c.1502A>G (CACNB2)	NP_963887.2:p.His501Arg
NM_201596.3:c.1616A>G (CACNB2) MANE Select	NP_963890.2:p.His539Arg
NM_201597.3:c.1544A>G (CACNB2)	NP_963891.1:p.His515Arg