Canonical Allele Identifier: CA376072809
Community Standard Title: NM_201596.3(CACNB2):c.1912G>T (p.Asp638Tyr)
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539653G>T , CM000672.2:g.18539653G>T GRCh38
NC_000010.10:g.18828582G>T , CM000672.1:g.18828582G>T GRCh37
NC_000010.9:g.18868588G>T NCBI36
NG_016195.1:g.403977G>T

Transcript Alleles

HGVS Amino-acid Change
NM_201596.3:c.1912G>T (CACNB2) MANE Select NP_963890.2:p.Asp638Tyr
ENST00000324631.13:c.1912G>T (CACNB2) MANE Select ENSP00000320025.8:p.Asp638Tyr
NM_201590.3:c.1750G>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Asp584Tyr
ENST00000377329.10:c.1750G>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Asp584Tyr
NM_000724.3:c.1747G>T (CACNB2) NP_000715.2:p.Asp583Tyr
NM_000724.4:c.1747G>T (CACNB2) NP_000715.2:p.Asp583Tyr
NM_001167945.1:c.1714G>T (CACNB2) NP_001161417.1:p.Asp572Tyr
NM_001167945.2:c.1714G>T (CACNB2) NP_001161417.1:p.Asp572Tyr
NM_001330060.1:c.1633G>T (CACNB2) NP_001316989.1:p.Asp545Tyr
NM_001330060.2:c.1633G>T (CACNB2) NP_001316989.1:p.Asp545Tyr
NM_201570.2:c.1768G>T (CACNB2) NP_963864.1:p.Asp590Tyr
NM_201570.3:c.1768G>T (CACNB2) NP_963864.1:p.Asp590Tyr
NM_201571.3:c.1828G>T (CACNB2) NP_963865.2:p.Asp610Tyr
NM_201571.4:c.1828G>T (CACNB2) NP_963865.2:p.Asp610Tyr
NM_201572.3:c.1756G>T (CACNB2) NP_963866.2:p.Asp586Tyr
NM_201572.4:c.1756G>T (CACNB2) NP_963866.2:p.Asp586Tyr
NM_201590.2:c.1750G>T (CACNB2) NP_963884.2:p.Asp584Tyr
NM_201593.2:c.1798G>T (CACNB2) NP_963887.2:p.Asp600Tyr
NM_201593.3:c.1798G>T (CACNB2) NP_963887.2:p.Asp600Tyr
NM_201596.2:c.1912G>T (CACNB2) NP_963890.2:p.Asp638Tyr
NM_201597.2:c.1840G>T (CACNB2) NP_963891.1:p.Asp614Tyr
NM_201597.3:c.1840G>T (CACNB2) NP_963891.1:p.Asp614Tyr
ENST00000282343.12:c.1828G>T (CACNB2) ENSP00000282343.8:p.Asp610Tyr
ENST00000282343.13:c.1828G>T (CACNB2) ENSP00000282343.8:p.Asp610Tyr
ENST00000324631.11:c.1912G>T (CACNB2) ENSP00000320025.7:p.Asp638Tyr
ENST00000352115.10:c.1840G>T (CACNB2) ENSP00000344474.6:p.Asp614Tyr
ENST00000377315.4:c.1768G>T (CACNB2) ENSP00000366532.4:p.Asp590Tyr
ENST00000377315.5:c.1768G>T (CACNB2) ENSP00000366532.4:p.Asp590Tyr
ENST00000377315.6:c.1768G>T (CACNB2) ENSP00000366532.4:p.Asp590Tyr
ENST00000377319.7:c.1633G>T (CACNB2) ENSP00000366536.3:p.Asp545Tyr
ENST00000377319.8:c.1633G>T (CACNB2) ENSP00000366536.3:p.Asp545Tyr
ENST00000377319.9:c.1633G>T (CACNB2) ENSP00000366536.3:p.Asp545Tyr
ENST00000377328.5:c.1162G>T (CACNB2) ENSP00000366545.1:p.Asp388Tyr
ENST00000377329.8:c.1750G>T (CACNB2) ENSP00000366546.4:p.Asp584Tyr
ENST00000377331.6:c.1756G>T (CACNB2) ENSP00000366548.2:p.Asp586Tyr
ENST00000377331.8:c.1537G>T (CACNB2) ENSP00000366548.4:p.Asp513Tyr
ENST00000396576.6:c.1747G>T (CACNB2) ENSP00000379821.2:p.Asp583Tyr
ENST00000612134.4:c.1616G>T (CACNB2) ENSP00000480563.1:n.1616G>T
ENST00000612743.1:c.424G>T (CACNB2) ENSP00000478676.1:p.Asp142Tyr
ENST00000615785.4:c.997G>T (CACNB2) ENSP00000480260.1:p.Asp333Tyr
ENST00000617363.4:c.1675G>T (CACNB2) ENSP00000479756.1:p.Asp559Tyr
ENST00000643096.2:c.1714G>T (CACNB2) ENSP00000494209.2:p.Asp572Tyr
ENST00000645287.1:c.1756G>T (CACNB2) ENSP00000496203.1:p.Asp586Tyr
ENST00000645287.2:c.1756G>T (CACNB2) ENSP00000496203.1:p.Asp586Tyr
ENST00000647168.2:c.*1053G>T (CACNB2) ENSP00000495854.2:n.*1053G>T
ENST00000650685.1:c.1654G>T (CACNB2) ENSP00000498460.1:p.Asp552Tyr
ENST00000651330.1:c.*1186G>T (CACNB2) ENSP00000498457.1:n.*1186G>T
ENST00000651468.1:c.1469G>T (CACNB2) ENSP00000498352.1:n.1469G>T
ENST00000651928.1:c.*1151G>T (CACNB2) ENSP00000499177.1:n.*1151G>T
ENST00000652391.1:c.1732G>T (CACNB2) ENSP00000498938.1:p.Asp578Tyr
ENST00000652478.1:c.*1012G>T (CACNB2) ENSP00000498812.1:n.*1012G>T
XM_005252588.2:c.1654G>T (CACNB2) XP_005252645.1:p.Asp552Tyr
XM_005252588.4:c.1654G>T (CACNB2) XP_005252645.1:p.Asp552Tyr
XM_005252591.2:c.1072G>T (CACNB2) XP_005252648.1:p.Asp358Tyr
XM_005252591.3:c.1072G>T (CACNB2) XP_005252648.1:p.Asp358Tyr
XM_006717502.2:c.1732G>T (CACNB2) XP_006717565.1:p.Asp578Tyr
XM_006717502.3:c.1732G>T (CACNB2) XP_006717565.1:p.Asp578Tyr
XM_011519659.1:c.1678G>T (CACNB2) XP_011517961.1:p.Asp560Tyr
XM_011519659.2:c.1678G>T (CACNB2) XP_011517961.1:p.Asp560Tyr
XM_011519660.1:c.1633G>T (CACNB2) XP_011517962.1:p.Asp545Tyr
XM_017016625.1:c.1072G>T (CACNB2) XP_016872114.1:p.Asp358Tyr
XR_001747060.1:n.2423+2416C>A (NSUN6)
XR_001747198.1:n.2037G>T (CACNB2)