Canonical Allele Identifier: CA376071144

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539254-G-A
• MyVariant Identifiers: chr10:g.18828183G>A (hg19) ; chr10:g.18539254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539254G>A , CM000672.2:g.18539254G>A	GRCh38
NC_000010.10:g.18828183G>A , CM000672.1:g.18828183G>A	GRCh37
NC_000010.9:g.18868189G>A	NCBI36
NG_016195.1:g.403578G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377315.6:c.1369G>A (CACNB2)	ENSP00000366532.4:p.Asp457Asn
ENST00000377319.9:c.1234G>A (CACNB2)	ENSP00000366536.3:p.Asp412Asn
ENST00000645287.2:c.1357G>A (CACNB2)	ENSP00000496203.1:p.Asp453Asn
ENST00000282343.13:c.1429G>A (CACNB2)	ENSP00000282343.8:p.Asp477Asn
ENST00000324631.13:c.1513G>A (CACNB2) MANE Select	ENSP00000320025.8:p.Asp505Asn
ENST00000377315.5:c.1369G>A (CACNB2)	ENSP00000366532.4:p.Asp457Asn
ENST00000377319.8:c.1234G>A (CACNB2)	ENSP00000366536.3:p.Asp412Asn
ENST00000377329.10:c.1351G>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp451Asn
ENST00000377331.8:c.1138G>A (CACNB2)	ENSP00000366548.4:p.Asp380Asn
ENST00000643096.2:c.1315G>A (CACNB2)	ENSP00000494209.2:p.Asp439Asn
ENST00000645287.1:c.1357G>A (CACNB2)	ENSP00000496203.1:p.Asp453Asn
ENST00000647168.2:c.*654G>A (CACNB2)	ENSP00000495854.2:n.*654G>A
ENST00000650685.1:c.1255G>A (CACNB2)	ENSP00000498460.1:p.Asp419Asn
ENST00000651330.1:c.*787G>A (CACNB2)	ENSP00000498457.1:n.*787G>A
ENST00000651468.1:c.1070G>A (CACNB2)	ENSP00000498352.1:n.1070G>A
ENST00000651928.1:c.*752G>A (CACNB2)	ENSP00000499177.1:n.*752G>A
ENST00000652391.1:c.1333G>A (CACNB2)	ENSP00000498938.1:p.Asp445Asn
ENST00000652478.1:c.*613G>A (CACNB2)	ENSP00000498812.1:n.*613G>A
ENST00000282343.12:c.1429G>A (CACNB2)	ENSP00000282343.8:p.Asp477Asn
ENST00000324631.11:c.1513G>A (CACNB2)	ENSP00000320025.7:p.Asp505Asn
ENST00000352115.10:c.1441G>A (CACNB2)	ENSP00000344474.6:p.Asp481Asn
ENST00000377315.4:c.1369G>A (CACNB2)	ENSP00000366532.4:p.Asp457Asn
ENST00000377319.7:c.1234G>A (CACNB2)	ENSP00000366536.3:p.Asp412Asn
ENST00000377328.5:c.763G>A (CACNB2)	ENSP00000366545.1:p.Asp255Asn
ENST00000377329.8:c.1351G>A (CACNB2)	ENSP00000366546.4:p.Asp451Asn
ENST00000377331.6:c.1357G>A (CACNB2)	ENSP00000366548.2:p.Asp453Asn
ENST00000396576.6:c.1348G>A (CACNB2)	ENSP00000379821.2:p.Asp450Asn
ENST00000612134.4:c.1217G>A (CACNB2)	ENSP00000480563.1:n.1217G>A
ENST00000612743.1:c.35-10G>A (CACNB2)	ENSP00000478676.1:n.35-10G>A
ENST00000615785.4:c.598G>A (CACNB2)	ENSP00000480260.1:p.Asp200Asn
ENST00000617363.4:c.1276G>A (CACNB2)	ENSP00000479756.1:p.Asp426Asn
NM_000724.3:c.1348G>A (CACNB2)	NP_000715.2:p.Asp450Asn
NM_001167945.1:c.1315G>A (CACNB2)	NP_001161417.1:p.Asp439Asn
NM_201570.2:c.1369G>A (CACNB2)	NP_963864.1:p.Asp457Asn
NM_201571.3:c.1429G>A (CACNB2)	NP_963865.2:p.Asp477Asn
NM_201572.3:c.1357G>A (CACNB2)	NP_963866.2:p.Asp453Asn
NM_201590.2:c.1351G>A (CACNB2)	NP_963884.2:p.Asp451Asn
NM_201593.2:c.1399G>A (CACNB2)	NP_963887.2:p.Asp467Asn
NM_201596.2:c.1513G>A (CACNB2)	NP_963890.2:p.Asp505Asn
NM_201597.2:c.1441G>A (CACNB2)	NP_963891.1:p.Asp481Asn
XM_005252588.2:c.1255G>A (CACNB2)	XP_005252645.1:p.Asp419Asn
XM_005252591.2:c.673G>A (CACNB2)	XP_005252648.1:p.Asp225Asn
XM_006717502.2:c.1333G>A (CACNB2)	XP_006717565.1:p.Asp445Asn
XM_011519659.1:c.1279G>A (CACNB2)	XP_011517961.1:p.Asp427Asn
XM_011519660.1:c.1234G>A (CACNB2)	XP_011517962.1:p.Asp412Asn
XR_930717.1:n.12C>T
NM_001330060.1:c.1234G>A (CACNB2)	NP_001316989.1:p.Asp412Asn
XM_005252588.4:c.1255G>A (CACNB2)	XP_005252645.1:p.Asp419Asn
XM_005252591.3:c.673G>A (CACNB2)	XP_005252648.1:p.Asp225Asn
XM_006717502.3:c.1333G>A (CACNB2)	XP_006717565.1:p.Asp445Asn
XM_011519659.2:c.1279G>A (CACNB2)	XP_011517961.1:p.Asp427Asn
XM_017016625.1:c.673G>A (CACNB2)	XP_016872114.1:p.Asp225Asn
XR_001747060.1:n.2423+2815C>T (NSUN6)
XR_001747198.1:n.1638G>A (CACNB2)
NM_000724.4:c.1348G>A (CACNB2)	NP_000715.2:p.Asp450Asn
NM_001167945.2:c.1315G>A (CACNB2)	NP_001161417.1:p.Asp439Asn
NM_001330060.2:c.1234G>A (CACNB2)	NP_001316989.1:p.Asp412Asn
NM_201570.3:c.1369G>A (CACNB2)	NP_963864.1:p.Asp457Asn
NM_201571.4:c.1429G>A (CACNB2)	NP_963865.2:p.Asp477Asn
NM_201572.4:c.1357G>A (CACNB2)	NP_963866.2:p.Asp453Asn
NM_201590.3:c.1351G>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp451Asn
NM_201593.3:c.1399G>A (CACNB2)	NP_963887.2:p.Asp467Asn
NM_201596.3:c.1513G>A (CACNB2) MANE Select	NP_963890.2:p.Asp505Asn
NM_201597.3:c.1441G>A (CACNB2)	NP_963891.1:p.Asp481Asn