Canonical Allele Identifier: CA397108385
Community Standard Title: NM_001318525.2(TRAPPC2L):c.350A>G (p.Asn117Ser)
Gene: TRAPPC2L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88859948A>G , CM000678.2:g.88859948A>G GRCh38
NC_000016.9:g.88926356A>G , CM000678.1:g.88926356A>G GRCh37
NC_000016.8:g.87453857A>G NCBI36
NG_008667.1:g.2019T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001318525.2:c.350A>G MANE Select NP_001305454.1:p.Asn117Ser
ENST00000696289.1:c.350A>G MANE Select ENSP00000512526.1:p.Asn117Ser
NM_001318524.1:c.350A>G NP_001305453.1:p.Asn117Ser
NM_001318524.2:c.350A>G NP_001305453.1:p.Asn117Ser
NM_001318525.1:c.350A>G NP_001305454.1:p.Asn117Ser
NM_001318526.1:c.320A>G NP_001305455.1:p.Asn107Ser
NM_001318526.2:c.320A>G NP_001305455.1:p.Asn107Ser
NM_001318527.1:c.257A>G NP_001305456.1:p.Asn86Ser
NM_001318527.2:c.257A>G NP_001305456.1:p.Asn86Ser
NM_001318528.1:c.260A>G NP_001305457.1:p.Asn87Ser
NM_001318528.2:c.260A>G NP_001305457.1:p.Asn87Ser
NM_001318529.1:c.257A>G NP_001305458.1:p.Asn86Ser
NM_001318529.2:c.257A>G NP_001305458.1:p.Asn86Ser
NM_001318530.1:c.260A>G NP_001305459.1:p.Asn87Ser
NM_001318530.2:c.260A>G NP_001305459.1:p.Asn87Ser
NM_001318532.1:c.257A>G NP_001305461.1:p.Asn86Ser
NM_001318532.2:c.257A>G NP_001305461.1:p.Asn86Ser
NM_016209.3:c.350A>G NP_057293.1:p.Asn117Ser
NM_016209.4:c.350A>G NP_057293.1:p.Asn117Ser
NM_016209.5:c.350A>G NP_057293.1:p.Asn117Ser
NR_134670.1:n.602A>G
NR_134670.2:n.561A>G
NR_134671.1:n.531A>G
NR_134671.2:n.531A>G
ENST00000301021.7:c.350A>G ENSP00000301021.3:p.Asn117Ser
ENST00000561840.1:c.320A>G ENSP00000455892.1:p.Asn107Ser
ENST00000562125.1:n.506A>G
ENST00000563514.1:n.178A>G
ENST00000564365.5:c.107A>G ENSP00000455447.1:p.Asn36Ser
ENST00000564404.5:c.*438A>G ENSP00000455392.1:n.*438A>G
ENST00000565205.5:c.*438A>G ENSP00000454927.1:n.*438A>G
ENST00000565309.1:n.461A>G
ENST00000565504.5:c.350A>G ENSP00000455100.1:p.Asn117Ser
ENST00000567312.5:c.260A>G ENSP00000455235.1:p.Asn87Ser
ENST00000567895.5:c.260A>G ENSP00000457684.1:p.Asn87Ser
ENST00000568583.5:c.350A>G ENSP00000457728.1:p.Asn117Ser
XM_005256313.2:c.350A>G XP_005256370.2:p.Asn117Ser
XM_017023270.1:c.320A>G XP_016878759.1:p.Asn107Ser