Canonical Allele Identifier: CA199940
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18515022G>A , CM000672.2:g.18515022G>A GRCh38
NC_000010.10:g.18803951G>A , CM000672.1:g.18803951G>A GRCh37
NC_000010.9:g.18843957G>A NCBI36
NG_016195.1:g.379346G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.660+653G>A (CACNB2) ENSP00000366532.4:n.660+653G>A
ENST00000377319.9:c.525+492G>A (CACNB2) ENSP00000366536.3:n.525+492G>A
ENST00000645287.2:c.629G>A (CACNB2) ENSP00000496203.1:p.Gly210Asp
ENST00000282343.13:c.720+653G>A (CACNB2) ENSP00000282343.8:n.720+653G>A
ENST00000324631.13:c.804+653G>A (CACNB2) MANE Select ENSP00000320025.8:n.804+653G>A
ENST00000377315.5:c.660+653G>A (CACNB2) ENSP00000366532.4:n.660+653G>A
ENST00000377319.8:c.525+492G>A (CACNB2) ENSP00000366536.3:n.525+492G>A
ENST00000377329.10:c.642+653G>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:n.642+653G>A
ENST00000377331.8:c.525+492G>A (CACNB2) ENSP00000366548.4:n.525+492G>A
ENST00000643096.2:c.606+492G>A (CACNB2) ENSP00000494209.2:n.606+492G>A
ENST00000643330.1:n.891+492G>A (CACNB2)
ENST00000644004.1:c.649G>A (CACNB2) ENSP00000495509.1:p.Ala217Thr
ENST00000645287.1:c.629G>A (CACNB2) ENSP00000496203.1:p.Gly210Asp
ENST00000647168.2:c.589G>A (CACNB2) ENSP00000495854.2:p.Ala197Thr
ENST00000650685.1:c.546+492G>A (CACNB2) ENSP00000498460.1:n.546+492G>A
ENST00000651330.1:c.*59G>A (CACNB2) ENSP00000498457.1:n.*59G>A
ENST00000651468.1:c.361+492G>A (CACNB2) ENSP00000498352.1:n.361+492G>A
ENST00000651928.1:c.*24G>A (CACNB2) ENSP00000499177.1:n.*24G>A
ENST00000652391.1:c.624+653G>A (CACNB2) ENSP00000498938.1:n.624+653G>A
ENST00000652478.1:c.660+653G>A (CACNB2) ENSP00000498812.1:n.660+653G>A
ENST00000282343.12:c.720+653G>A (CACNB2) ENSP00000282343.8:n.720+653G>A
ENST00000324631.11:c.804+653G>A (CACNB2) ENSP00000320025.7:n.804+653G>A
ENST00000352115.10:c.713G>A (CACNB2) ENSP00000344474.6:p.Gly238Asp
ENST00000377315.4:c.660+653G>A (CACNB2) ENSP00000366532.4:n.660+653G>A
ENST00000377319.7:c.525+492G>A (CACNB2) ENSP00000366536.3:n.525+492G>A
ENST00000377328.5:c.456+16545G>A (CACNB2) ENSP00000366545.1:n.456+16545G>A
ENST00000377329.8:c.642+653G>A (CACNB2) ENSP00000366546.4:n.642+653G>A
ENST00000377331.6:c.629G>A (CACNB2) ENSP00000366548.2:p.Gly210Asp
ENST00000396576.6:c.639+653G>A (CACNB2) ENSP00000379821.2:n.639+653G>A
ENST00000612134.4:c.509-3314G>A (CACNB2) ENSP00000480563.1:n.509-3314G>A
ENST00000612743.1:c.35-24242G>A (CACNB2) ENSP00000478676.1:n.35-24242G>A
ENST00000615785.4:c.291+16545G>A (CACNB2) ENSP00000480260.1:n.291+16545G>A
ENST00000617363.4:c.548G>A (CACNB2) ENSP00000479756.1:p.Gly183Asp
NM_000724.3:c.639+653G>A (CACNB2) NP_000715.2:n.639+653G>A
NM_001167945.1:c.606+492G>A (CACNB2) NP_001161417.1:n.606+492G>A
NM_201570.2:c.660+653G>A (CACNB2) NP_963864.1:n.660+653G>A
NM_201571.3:c.720+653G>A (CACNB2) NP_963865.2:n.720+653G>A
NM_201572.3:c.629G>A (CACNB2) NP_963866.2:p.Gly210Asp
NM_201590.2:c.642+653G>A (CACNB2) NP_963884.2:n.642+653G>A
NM_201593.2:c.690+492G>A (CACNB2) NP_963887.2:n.690+492G>A
NM_201596.2:c.804+653G>A (CACNB2) NP_963890.2:n.804+653G>A
NM_201597.2:c.713G>A (CACNB2) NP_963891.1:p.Gly238Asp
XM_005252588.2:c.546+492G>A (CACNB2) XP_005252645.1:n.546+492G>A
XM_005252591.2:c.-36-3314G>A (CACNB2) XP_005252648.1:n.-36-3314G>A
XM_006717502.2:c.624+653G>A (CACNB2) XP_006717565.1:n.624+653G>A
XM_011519659.1:c.551G>A (CACNB2) XP_011517961.1:p.Gly184Asp
XM_011519660.1:c.525+492G>A (CACNB2) XP_011517962.1:n.525+492G>A
XR_930717.1:n.73-1362C>T
XR_930718.1:n.1034-1362C>T
NM_001330060.1:c.525+492G>A (CACNB2) NP_001316989.1:n.525+492G>A
XM_005252588.4:c.546+492G>A (CACNB2) XP_005252645.1:n.546+492G>A
XM_005252591.3:c.-36-3314G>A (CACNB2) XP_005252648.1:n.-36-3314G>A
XM_006717502.3:c.624+653G>A (CACNB2) XP_006717565.1:n.624+653G>A
XM_011519659.2:c.551G>A (CACNB2) XP_011517961.1:p.Gly184Asp
XM_017016625.1:c.-56G>A (CACNB2) XP_016872114.1:n.-56G>A
XR_001747060.1:n.2424-1362C>T (NSUN6)
XR_001747198.1:n.910G>A (CACNB2)
NM_000724.4:c.639+653G>A (CACNB2) NP_000715.2:n.639+653G>A
NM_001167945.2:c.606+492G>A (CACNB2) NP_001161417.1:n.606+492G>A
NM_001330060.2:c.525+492G>A (CACNB2) NP_001316989.1:n.525+492G>A
NM_201570.3:c.660+653G>A (CACNB2) NP_963864.1:n.660+653G>A
NM_201571.4:c.720+653G>A (CACNB2) NP_963865.2:n.720+653G>A
NM_201572.4:c.629G>A (CACNB2) NP_963866.2:p.Gly210Asp
NM_201590.3:c.642+653G>A (CACNB2) MANE Plus Clinical NP_963884.2:n.642+653G>A
NM_201593.3:c.690+492G>A (CACNB2) NP_963887.2:n.690+492G>A
NM_201596.3:c.804+653G>A (CACNB2) MANE Select NP_963890.2:n.804+653G>A
NM_201597.3:c.713G>A (CACNB2) NP_963891.1:p.Gly238Asp