Canonical Allele Identifier: CA376071779

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs202218948
• MyVariant Identifiers: chr10:g.18828366G>C (hg19) ; chr10:g.18539437G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539437G>C , CM000672.2:g.18539437G>C	GRCh38
NC_000010.10:g.18828366G>C , CM000672.1:g.18828366G>C	GRCh37
NC_000010.9:g.18868372G>C	NCBI36
NG_016195.1:g.403761G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1552G>C (CACNB2)	ENSP00000366532.4:p.Ala518Pro
ENST00000377319.9:c.1417G>C (CACNB2)	ENSP00000366536.3:p.Ala473Pro
ENST00000645287.2:c.1540G>C (CACNB2)	ENSP00000496203.1:p.Ala514Pro
ENST00000282343.13:c.1612G>C (CACNB2)	ENSP00000282343.8:p.Ala538Pro
ENST00000324631.13:c.1696G>C (CACNB2) MANE Select	ENSP00000320025.8:p.Ala566Pro
ENST00000377315.5:c.1552G>C (CACNB2)	ENSP00000366532.4:p.Ala518Pro
ENST00000377319.8:c.1417G>C (CACNB2)	ENSP00000366536.3:p.Ala473Pro
ENST00000377329.10:c.1534G>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ala512Pro
ENST00000377331.8:c.1321G>C (CACNB2)	ENSP00000366548.4:p.Ala441Pro
ENST00000643096.2:c.1498G>C (CACNB2)	ENSP00000494209.2:p.Ala500Pro
ENST00000645287.1:c.1540G>C (CACNB2)	ENSP00000496203.1:p.Ala514Pro
ENST00000647168.2:c.*837G>C (CACNB2)	ENSP00000495854.2:n.*837G>C
ENST00000650685.1:c.1438G>C (CACNB2)	ENSP00000498460.1:p.Ala480Pro
ENST00000651330.1:c.*970G>C (CACNB2)	ENSP00000498457.1:n.*970G>C
ENST00000651468.1:c.1253G>C (CACNB2)	ENSP00000498352.1:n.1253G>C
ENST00000651928.1:c.*935G>C (CACNB2)	ENSP00000499177.1:n.*935G>C
ENST00000652391.1:c.1516G>C (CACNB2)	ENSP00000498938.1:p.Ala506Pro
ENST00000652478.1:c.*796G>C (CACNB2)	ENSP00000498812.1:n.*796G>C
ENST00000282343.12:c.1612G>C (CACNB2)	ENSP00000282343.8:p.Ala538Pro
ENST00000324631.11:c.1696G>C (CACNB2)	ENSP00000320025.7:p.Ala566Pro
ENST00000352115.10:c.1624G>C (CACNB2)	ENSP00000344474.6:p.Ala542Pro
ENST00000377315.4:c.1552G>C (CACNB2)	ENSP00000366532.4:p.Ala518Pro
ENST00000377319.7:c.1417G>C (CACNB2)	ENSP00000366536.3:p.Ala473Pro
ENST00000377328.5:c.946G>C (CACNB2)	ENSP00000366545.1:p.Ala316Pro
ENST00000377329.8:c.1534G>C (CACNB2)	ENSP00000366546.4:p.Ala512Pro
ENST00000377331.6:c.1540G>C (CACNB2)	ENSP00000366548.2:p.Ala514Pro
ENST00000396576.6:c.1531G>C (CACNB2)	ENSP00000379821.2:p.Ala511Pro
ENST00000612134.4:c.1400G>C (CACNB2)	ENSP00000480563.1:n.1400G>C
ENST00000612743.1:c.208G>C (CACNB2)	ENSP00000478676.1:p.Ala70Pro
ENST00000615785.4:c.781G>C (CACNB2)	ENSP00000480260.1:p.Ala261Pro
ENST00000617363.4:c.1459G>C (CACNB2)	ENSP00000479756.1:p.Ala487Pro
NM_000724.3:c.1531G>C (CACNB2)	NP_000715.2:p.Ala511Pro
NM_001167945.1:c.1498G>C (CACNB2)	NP_001161417.1:p.Ala500Pro
NM_201570.2:c.1552G>C (CACNB2)	NP_963864.1:p.Ala518Pro
NM_201571.3:c.1612G>C (CACNB2)	NP_963865.2:p.Ala538Pro
NM_201572.3:c.1540G>C (CACNB2)	NP_963866.2:p.Ala514Pro
NM_201590.2:c.1534G>C (CACNB2)	NP_963884.2:p.Ala512Pro
NM_201593.2:c.1582G>C (CACNB2)	NP_963887.2:p.Ala528Pro
NM_201596.2:c.1696G>C (CACNB2)	NP_963890.2:p.Ala566Pro
NM_201597.2:c.1624G>C (CACNB2)	NP_963891.1:p.Ala542Pro
XM_005252588.2:c.1438G>C (CACNB2)	XP_005252645.1:p.Ala480Pro
XM_005252591.2:c.856G>C (CACNB2)	XP_005252648.1:p.Ala286Pro
XM_006717502.2:c.1516G>C (CACNB2)	XP_006717565.1:p.Ala506Pro
XM_011519659.1:c.1462G>C (CACNB2)	XP_011517961.1:p.Ala488Pro
XM_011519660.1:c.1417G>C (CACNB2)	XP_011517962.1:p.Ala473Pro
NM_001330060.1:c.1417G>C (CACNB2)	NP_001316989.1:p.Ala473Pro
XM_005252588.4:c.1438G>C (CACNB2)	XP_005252645.1:p.Ala480Pro
XM_005252591.3:c.856G>C (CACNB2)	XP_005252648.1:p.Ala286Pro
XM_006717502.3:c.1516G>C (CACNB2)	XP_006717565.1:p.Ala506Pro
XM_011519659.2:c.1462G>C (CACNB2)	XP_011517961.1:p.Ala488Pro
XM_017016625.1:c.856G>C (CACNB2)	XP_016872114.1:p.Ala286Pro
XR_001747060.1:n.2423+2632C>G (NSUN6)
XR_001747198.1:n.1821G>C (CACNB2)
NM_000724.4:c.1531G>C (CACNB2)	NP_000715.2:p.Ala511Pro
NM_001167945.2:c.1498G>C (CACNB2)	NP_001161417.1:p.Ala500Pro
NM_001330060.2:c.1417G>C (CACNB2)	NP_001316989.1:p.Ala473Pro
NM_201570.3:c.1552G>C (CACNB2)	NP_963864.1:p.Ala518Pro
NM_201571.4:c.1612G>C (CACNB2)	NP_963865.2:p.Ala538Pro
NM_201572.4:c.1540G>C (CACNB2)	NP_963866.2:p.Ala514Pro
NM_201590.3:c.1534G>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ala512Pro
NM_201593.3:c.1582G>C (CACNB2)	NP_963887.2:p.Ala528Pro
NM_201596.3:c.1696G>C (CACNB2) MANE Select	NP_963890.2:p.Ala566Pro
NM_201597.3:c.1624G>C (CACNB2)	NP_963891.1:p.Ala542Pro