Canonical Allele Identifier: CA376071498

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828285C>G (hg19) ; chr10:g.18539356C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539356C>G , CM000672.2:g.18539356C>G	GRCh38
NC_000010.10:g.18828285C>G , CM000672.1:g.18828285C>G	GRCh37
NC_000010.9:g.18868291C>G	NCBI36
NG_016195.1:g.403680C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1471C>G (CACNB2)	ENSP00000366532.4:p.His491Asp
ENST00000377319.9:c.1336C>G (CACNB2)	ENSP00000366536.3:p.His446Asp
ENST00000645287.2:c.1459C>G (CACNB2)	ENSP00000496203.1:p.His487Asp
ENST00000282343.13:c.1531C>G (CACNB2)	ENSP00000282343.8:p.His511Asp
ENST00000324631.13:c.1615C>G (CACNB2) MANE Select	ENSP00000320025.8:p.His539Asp
ENST00000377315.5:c.1471C>G (CACNB2)	ENSP00000366532.4:p.His491Asp
ENST00000377319.8:c.1336C>G (CACNB2)	ENSP00000366536.3:p.His446Asp
ENST00000377329.10:c.1453C>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His485Asp
ENST00000377331.8:c.1240C>G (CACNB2)	ENSP00000366548.4:p.His414Asp
ENST00000643096.2:c.1417C>G (CACNB2)	ENSP00000494209.2:p.His473Asp
ENST00000645287.1:c.1459C>G (CACNB2)	ENSP00000496203.1:p.His487Asp
ENST00000647168.2:c.*756C>G (CACNB2)	ENSP00000495854.2:n.*756C>G
ENST00000650685.1:c.1357C>G (CACNB2)	ENSP00000498460.1:p.His453Asp
ENST00000651330.1:c.*889C>G (CACNB2)	ENSP00000498457.1:n.*889C>G
ENST00000651468.1:c.1172C>G (CACNB2)	ENSP00000498352.1:n.1172C>G
ENST00000651928.1:c.*854C>G (CACNB2)	ENSP00000499177.1:n.*854C>G
ENST00000652391.1:c.1435C>G (CACNB2)	ENSP00000498938.1:p.His479Asp
ENST00000652478.1:c.*715C>G (CACNB2)	ENSP00000498812.1:n.*715C>G
ENST00000282343.12:c.1531C>G (CACNB2)	ENSP00000282343.8:p.His511Asp
ENST00000324631.11:c.1615C>G (CACNB2)	ENSP00000320025.7:p.His539Asp
ENST00000352115.10:c.1543C>G (CACNB2)	ENSP00000344474.6:p.His515Asp
ENST00000377315.4:c.1471C>G (CACNB2)	ENSP00000366532.4:p.His491Asp
ENST00000377319.7:c.1336C>G (CACNB2)	ENSP00000366536.3:p.His446Asp
ENST00000377328.5:c.865C>G (CACNB2)	ENSP00000366545.1:p.His289Asp
ENST00000377329.8:c.1453C>G (CACNB2)	ENSP00000366546.4:p.His485Asp
ENST00000377331.6:c.1459C>G (CACNB2)	ENSP00000366548.2:p.His487Asp
ENST00000396576.6:c.1450C>G (CACNB2)	ENSP00000379821.2:p.His484Asp
ENST00000612134.4:c.1319C>G (CACNB2)	ENSP00000480563.1:n.1319C>G
ENST00000612743.1:c.127C>G (CACNB2)	ENSP00000478676.1:p.His43Asp
ENST00000615785.4:c.700C>G (CACNB2)	ENSP00000480260.1:p.His234Asp
ENST00000617363.4:c.1378C>G (CACNB2)	ENSP00000479756.1:p.His460Asp
NM_000724.3:c.1450C>G (CACNB2)	NP_000715.2:p.His484Asp
NM_001167945.1:c.1417C>G (CACNB2)	NP_001161417.1:p.His473Asp
NM_201570.2:c.1471C>G (CACNB2)	NP_963864.1:p.His491Asp
NM_201571.3:c.1531C>G (CACNB2)	NP_963865.2:p.His511Asp
NM_201572.3:c.1459C>G (CACNB2)	NP_963866.2:p.His487Asp
NM_201590.2:c.1453C>G (CACNB2)	NP_963884.2:p.His485Asp
NM_201593.2:c.1501C>G (CACNB2)	NP_963887.2:p.His501Asp
NM_201596.2:c.1615C>G (CACNB2)	NP_963890.2:p.His539Asp
NM_201597.2:c.1543C>G (CACNB2)	NP_963891.1:p.His515Asp
XM_005252588.2:c.1357C>G (CACNB2)	XP_005252645.1:p.His453Asp
XM_005252591.2:c.775C>G (CACNB2)	XP_005252648.1:p.His259Asp
XM_006717502.2:c.1435C>G (CACNB2)	XP_006717565.1:p.His479Asp
XM_011519659.1:c.1381C>G (CACNB2)	XP_011517961.1:p.His461Asp
XM_011519660.1:c.1336C>G (CACNB2)	XP_011517962.1:p.His446Asp
NM_001330060.1:c.1336C>G (CACNB2)	NP_001316989.1:p.His446Asp
XM_005252588.4:c.1357C>G (CACNB2)	XP_005252645.1:p.His453Asp
XM_005252591.3:c.775C>G (CACNB2)	XP_005252648.1:p.His259Asp
XM_006717502.3:c.1435C>G (CACNB2)	XP_006717565.1:p.His479Asp
XM_011519659.2:c.1381C>G (CACNB2)	XP_011517961.1:p.His461Asp
XM_017016625.1:c.775C>G (CACNB2)	XP_016872114.1:p.His259Asp
XR_001747060.1:n.2423+2713G>C (NSUN6)
XR_001747198.1:n.1740C>G (CACNB2)
NM_000724.4:c.1450C>G (CACNB2)	NP_000715.2:p.His484Asp
NM_001167945.2:c.1417C>G (CACNB2)	NP_001161417.1:p.His473Asp
NM_001330060.2:c.1336C>G (CACNB2)	NP_001316989.1:p.His446Asp
NM_201570.3:c.1471C>G (CACNB2)	NP_963864.1:p.His491Asp
NM_201571.4:c.1531C>G (CACNB2)	NP_963865.2:p.His511Asp
NM_201572.4:c.1459C>G (CACNB2)	NP_963866.2:p.His487Asp
NM_201590.3:c.1453C>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.His485Asp
NM_201593.3:c.1501C>G (CACNB2)	NP_963887.2:p.His501Asp
NM_201596.3:c.1615C>G (CACNB2) MANE Select	NP_963890.2:p.His539Asp
NM_201597.3:c.1543C>G (CACNB2)	NP_963891.1:p.His515Asp