Canonical Allele Identifier: CA8235458
Community Standard Title: NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly)
Gene: TRAPPC2L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88857155C>G , CM000678.2:g.88857155C>G GRCh38
NC_000016.9:g.88923563C>G , CM000678.1:g.88923563C>G GRCh37
NC_000016.8:g.87451064C>G NCBI36
NG_008667.1:g.4812G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001318525.2:c.5C>G MANE Select NP_001305454.1:p.Ala2Gly
ENST00000696289.1:c.5C>G MANE Select ENSP00000512526.1:p.Ala2Gly
NM_001318524.1:c.5C>G NP_001305453.1:p.Ala2Gly
NM_001318524.2:c.5C>G NP_001305453.1:p.Ala2Gly
NM_001318525.1:c.5C>G NP_001305454.1:p.Ala2Gly
NM_001318526.1:c.-91C>G NP_001305455.1:n.-91C>G
NM_001318526.2:c.-91C>G NP_001305455.1:n.-91C>G
NM_001318527.1:c.-405C>G NP_001305456.1:n.-405C>G
NM_001318527.2:c.-405C>G NP_001305456.1:n.-405C>G
NM_001318528.1:c.-63C>G NP_001305457.1:n.-63C>G
NM_001318528.2:c.-63C>G NP_001305457.1:n.-63C>G
NM_001318529.1:c.-405C>G NP_001305458.1:n.-405C>G
NM_001318529.2:c.-405C>G NP_001305458.1:n.-405C>G
NM_001318530.1:c.-63C>G NP_001305459.1:n.-63C>G
NM_001318530.2:c.-63C>G NP_001305459.1:n.-63C>G
NM_001318532.1:c.-405C>G NP_001305461.1:n.-405C>G
NM_001318532.2:c.-405C>G NP_001305461.1:n.-405C>G
NM_016209.3:c.5C>G NP_057293.1:p.Ala2Gly
NM_016209.4:c.5C>G NP_057293.1:p.Ala2Gly
NM_016209.5:c.5C>G NP_057293.1:p.Ala2Gly
NR_134670.1:n.70C>G
NR_134670.2:n.29C>G
NR_134671.1:n.27+909C>G
NR_134671.2:n.27+909C>G
ENST00000301021.7:c.5C>G ENSP00000301021.3:p.Ala2Gly
ENST00000562792.1:c.5C>G ENSP00000455273.1:p.Ala2Gly
ENST00000564365.5:c.-398+909C>G ENSP00000455447.1:n.-398+909C>G
ENST00000564404.5:c.5C>G ENSP00000455392.1:p.Ala2Gly
ENST00000564547.1:n.58C>G
ENST00000565205.5:c.5C>G ENSP00000454927.1:p.Ala2Gly
ENST00000565504.5:c.5C>G ENSP00000455100.1:p.Ala2Gly
ENST00000567312.5:c.5C>G ENSP00000455235.1:p.Ala2Gly
ENST00000567895.5:c.-63C>G ENSP00000457684.1:n.-63C>G
ENST00000568583.5:c.5C>G ENSP00000457728.1:p.Ala2Gly
ENST00000625770.2:c.5C>G ENSP00000487584.1:p.Ala2Gly
XM_005256313.2:c.5C>G XP_005256370.2:p.Ala2Gly
XM_017023270.1:c.-114C>G XP_016878759.1:n.-114C>G