Canonical Allele Identifier: CA203216820
Community Standard Title: NM_201596.3(CACNB2):c.467A>G (p.Asn156Ser)
Gene: CACNB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18500822A>G , CM000672.2:g.18500822A>G GRCh38
NC_000010.10:g.18789751A>G , CM000672.1:g.18789751A>G GRCh37
NC_000010.9:g.18829757A>G NCBI36
NG_016195.1:g.365146A>G

Transcript Alleles

HGVS Amino-acid Change
NM_201596.3:c.467A>G MANE Select NP_963890.2:p.Asn156Ser
ENST00000324631.13:c.467A>G MANE Select ENSP00000320025.8:p.Asn156Ser
NM_201590.3:c.305A>G MANE Plus Clinical NP_963884.2:p.Asn102Ser
ENST00000377329.10:c.305A>G MANE Plus Clinical ENSP00000366546.4:p.Asn102Ser
NM_000724.3:c.302A>G NP_000715.2:p.Asn101Ser
NM_000724.4:c.302A>G NP_000715.2:p.Asn101Ser
NM_001167945.1:c.383A>G NP_001161417.1:p.Asn128Ser
NM_001167945.2:c.383A>G NP_001161417.1:p.Asn128Ser
NM_001330060.1:c.302A>G NP_001316989.1:p.Asn101Ser
NM_001330060.2:c.302A>G NP_001316989.1:p.Asn101Ser
NM_201570.2:c.323A>G NP_963864.1:p.Asn108Ser
NM_201570.3:c.323A>G NP_963864.1:p.Asn108Ser
NM_201571.3:c.383A>G NP_963865.2:p.Asn128Ser
NM_201571.4:c.383A>G NP_963865.2:p.Asn128Ser
NM_201572.3:c.383A>G NP_963866.2:p.Asn128Ser
NM_201572.4:c.383A>G NP_963866.2:p.Asn128Ser
NM_201590.2:c.305A>G NP_963884.2:p.Asn102Ser
NM_201593.2:c.467A>G NP_963887.2:p.Asn156Ser
NM_201593.3:c.467A>G NP_963887.2:p.Asn156Ser
NM_201596.2:c.467A>G NP_963890.2:p.Asn156Ser
NM_201597.2:c.467A>G NP_963891.1:p.Asn156Ser
NM_201597.3:c.467A>G NP_963891.1:p.Asn156Ser
ENST00000282343.12:c.383A>G ENSP00000282343.8:p.Asn128Ser
ENST00000282343.13:c.383A>G ENSP00000282343.8:p.Asn128Ser
ENST00000324631.11:c.467A>G ENSP00000320025.7:p.Asn156Ser
ENST00000352115.10:c.467A>G ENSP00000344474.6:p.Asn156Ser
ENST00000377315.4:c.323A>G ENSP00000366532.4:p.Asn108Ser
ENST00000377315.5:c.323A>G ENSP00000366532.4:p.Asn108Ser
ENST00000377315.6:c.323A>G ENSP00000366532.4:p.Asn108Ser
ENST00000377319.7:c.302A>G ENSP00000366536.3:p.Asn101Ser
ENST00000377319.8:c.302A>G ENSP00000366536.3:p.Asn101Ser
ENST00000377319.9:c.302A>G ENSP00000366536.3:p.Asn101Ser
ENST00000377328.5:c.456+2345A>G ENSP00000366545.1:n.456+2345A>G
ENST00000377329.8:c.305A>G ENSP00000366546.4:p.Asn102Ser
ENST00000377331.6:c.383A>G ENSP00000366548.2:p.Asn128Ser
ENST00000377331.8:c.302A>G ENSP00000366548.4:p.Asn101Ser
ENST00000396576.6:c.302A>G ENSP00000379821.2:p.Asn101Ser
ENST00000612134.4:c.305A>G ENSP00000480563.1:p.Asn102Ser
ENST00000612743.1:c.35-38442A>G ENSP00000478676.1:n.35-38442A>G
ENST00000615785.4:c.291+2345A>G ENSP00000480260.1:n.291+2345A>G
ENST00000617363.4:c.302A>G ENSP00000479756.1:p.Asn101Ser
ENST00000643096.2:c.383A>G ENSP00000494209.2:p.Asn128Ser
ENST00000643330.1:n.668A>G
ENST00000644004.1:c.383A>G ENSP00000495509.1:p.Asn128Ser
ENST00000645287.1:c.383A>G ENSP00000496203.1:p.Asn128Ser
ENST00000645287.2:c.383A>G ENSP00000496203.1:p.Asn128Ser
ENST00000647168.2:c.323A>G ENSP00000495854.2:p.Asn108Ser
ENST00000650685.1:c.323A>G ENSP00000498460.1:p.Asn108Ser
ENST00000651330.1:c.323A>G ENSP00000498457.1:p.Asn108Ser
ENST00000651468.1:c.215A>G ENSP00000498352.1:p.Asn72Ser
ENST00000651928.1:c.323A>G ENSP00000499177.1:p.Asn108Ser
ENST00000652391.1:c.287A>G ENSP00000498938.1:p.Asn96Ser
ENST00000652478.1:c.323A>G ENSP00000498812.1:p.Asn108Ser
XM_005252588.2:c.323A>G XP_005252645.1:p.Asn108Ser
XM_005252588.4:c.323A>G XP_005252645.1:p.Asn108Ser
XM_006717502.2:c.287A>G XP_006717565.1:p.Asn96Ser
XM_006717502.3:c.287A>G XP_006717565.1:p.Asn96Ser
XM_011519659.1:c.305A>G XP_011517961.1:p.Asn102Ser
XM_011519659.2:c.305A>G XP_011517961.1:p.Asn102Ser
XM_011519660.1:c.302A>G XP_011517962.1:p.Asn101Ser
XM_017016625.1:c.-322A>G XP_016872114.1:n.-322A>G
XR_001747198.1:n.644A>G