Canonical Allele Identifier: CA376071634

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs2053924971
• gnomAD v3: 10-18539396-A-C
• gnomAD v4: 10-18539396-A-C
• MyVariant Identifiers: chr10:g.18828325A>C (hg19) ; chr10:g.18539396A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539396A>C , CM000672.2:g.18539396A>C	GRCh38
NC_000010.10:g.18828325A>C , CM000672.1:g.18828325A>C	GRCh37
NC_000010.9:g.18868331A>C	NCBI36
NG_016195.1:g.403720A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1511A>C (CACNB2)	ENSP00000366532.4:p.Gln504Pro
ENST00000377319.9:c.1376A>C (CACNB2)	ENSP00000366536.3:p.Gln459Pro
ENST00000645287.2:c.1499A>C (CACNB2)	ENSP00000496203.1:p.Gln500Pro
ENST00000282343.13:c.1571A>C (CACNB2)	ENSP00000282343.8:p.Gln524Pro
ENST00000324631.13:c.1655A>C (CACNB2) MANE Select	ENSP00000320025.8:p.Gln552Pro
ENST00000377315.5:c.1511A>C (CACNB2)	ENSP00000366532.4:p.Gln504Pro
ENST00000377319.8:c.1376A>C (CACNB2)	ENSP00000366536.3:p.Gln459Pro
ENST00000377329.10:c.1493A>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Gln498Pro
ENST00000377331.8:c.1280A>C (CACNB2)	ENSP00000366548.4:p.Gln427Pro
ENST00000643096.2:c.1457A>C (CACNB2)	ENSP00000494209.2:p.Gln486Pro
ENST00000645287.1:c.1499A>C (CACNB2)	ENSP00000496203.1:p.Gln500Pro
ENST00000647168.2:c.*796A>C (CACNB2)	ENSP00000495854.2:n.*796A>C
ENST00000650685.1:c.1397A>C (CACNB2)	ENSP00000498460.1:p.Gln466Pro
ENST00000651330.1:c.*929A>C (CACNB2)	ENSP00000498457.1:n.*929A>C
ENST00000651468.1:c.1212A>C (CACNB2)	ENSP00000498352.1:n.1212A>C
ENST00000651928.1:c.*894A>C (CACNB2)	ENSP00000499177.1:n.*894A>C
ENST00000652391.1:c.1475A>C (CACNB2)	ENSP00000498938.1:p.Gln492Pro
ENST00000652478.1:c.*755A>C (CACNB2)	ENSP00000498812.1:n.*755A>C
ENST00000282343.12:c.1571A>C (CACNB2)	ENSP00000282343.8:p.Gln524Pro
ENST00000324631.11:c.1655A>C (CACNB2)	ENSP00000320025.7:p.Gln552Pro
ENST00000352115.10:c.1583A>C (CACNB2)	ENSP00000344474.6:p.Gln528Pro
ENST00000377315.4:c.1511A>C (CACNB2)	ENSP00000366532.4:p.Gln504Pro
ENST00000377319.7:c.1376A>C (CACNB2)	ENSP00000366536.3:p.Gln459Pro
ENST00000377328.5:c.905A>C (CACNB2)	ENSP00000366545.1:p.Gln302Pro
ENST00000377329.8:c.1493A>C (CACNB2)	ENSP00000366546.4:p.Gln498Pro
ENST00000377331.6:c.1499A>C (CACNB2)	ENSP00000366548.2:p.Gln500Pro
ENST00000396576.6:c.1490A>C (CACNB2)	ENSP00000379821.2:p.Gln497Pro
ENST00000612134.4:c.1359A>C (CACNB2)	ENSP00000480563.1:n.1359A>C
ENST00000612743.1:c.167A>C (CACNB2)	ENSP00000478676.1:p.Gln56Pro
ENST00000615785.4:c.740A>C (CACNB2)	ENSP00000480260.1:p.Gln247Pro
ENST00000617363.4:c.1418A>C (CACNB2)	ENSP00000479756.1:p.Gln473Pro
NM_000724.3:c.1490A>C (CACNB2)	NP_000715.2:p.Gln497Pro
NM_001167945.1:c.1457A>C (CACNB2)	NP_001161417.1:p.Gln486Pro
NM_201570.2:c.1511A>C (CACNB2)	NP_963864.1:p.Gln504Pro
NM_201571.3:c.1571A>C (CACNB2)	NP_963865.2:p.Gln524Pro
NM_201572.3:c.1499A>C (CACNB2)	NP_963866.2:p.Gln500Pro
NM_201590.2:c.1493A>C (CACNB2)	NP_963884.2:p.Gln498Pro
NM_201593.2:c.1541A>C (CACNB2)	NP_963887.2:p.Gln514Pro
NM_201596.2:c.1655A>C (CACNB2)	NP_963890.2:p.Gln552Pro
NM_201597.2:c.1583A>C (CACNB2)	NP_963891.1:p.Gln528Pro
XM_005252588.2:c.1397A>C (CACNB2)	XP_005252645.1:p.Gln466Pro
XM_005252591.2:c.815A>C (CACNB2)	XP_005252648.1:p.Gln272Pro
XM_006717502.2:c.1475A>C (CACNB2)	XP_006717565.1:p.Gln492Pro
XM_011519659.1:c.1421A>C (CACNB2)	XP_011517961.1:p.Gln474Pro
XM_011519660.1:c.1376A>C (CACNB2)	XP_011517962.1:p.Gln459Pro
NM_001330060.1:c.1376A>C (CACNB2)	NP_001316989.1:p.Gln459Pro
XM_005252588.4:c.1397A>C (CACNB2)	XP_005252645.1:p.Gln466Pro
XM_005252591.3:c.815A>C (CACNB2)	XP_005252648.1:p.Gln272Pro
XM_006717502.3:c.1475A>C (CACNB2)	XP_006717565.1:p.Gln492Pro
XM_011519659.2:c.1421A>C (CACNB2)	XP_011517961.1:p.Gln474Pro
XM_017016625.1:c.815A>C (CACNB2)	XP_016872114.1:p.Gln272Pro
XR_001747060.1:n.2423+2673T>G (NSUN6)
XR_001747198.1:n.1780A>C (CACNB2)
NM_000724.4:c.1490A>C (CACNB2)	NP_000715.2:p.Gln497Pro
NM_001167945.2:c.1457A>C (CACNB2)	NP_001161417.1:p.Gln486Pro
NM_001330060.2:c.1376A>C (CACNB2)	NP_001316989.1:p.Gln459Pro
NM_201570.3:c.1511A>C (CACNB2)	NP_963864.1:p.Gln504Pro
NM_201571.4:c.1571A>C (CACNB2)	NP_963865.2:p.Gln524Pro
NM_201572.4:c.1499A>C (CACNB2)	NP_963866.2:p.Gln500Pro
NM_201590.3:c.1493A>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Gln498Pro
NM_201593.3:c.1541A>C (CACNB2)	NP_963887.2:p.Gln514Pro
NM_201596.3:c.1655A>C (CACNB2) MANE Select	NP_963890.2:p.Gln552Pro
NM_201597.3:c.1583A>C (CACNB2)	NP_963891.1:p.Gln528Pro