Canonical Allele Identifier: CA7357393
Community Standard Title: NM_014844.5(TECPR2):c.220-2A>G
Gene: TECPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102407336A>G , CM000676.2:g.102407336A>G GRCh38
NC_000014.8:g.102873673A>G , CM000676.1:g.102873673A>G GRCh37
NC_000014.7:g.101943426A>G NCBI36
NG_042851.1:g.49425A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014844.5:c.220-2A>G MANE Select NP_055659.2:n.220-2A>G
ENST00000359520.12:c.220-2A>G MANE Select ENSP00000352510.7:n.220-2A>G
NM_001172631.1:c.220-2A>G NP_001166102.1:n.220-2A>G
NM_001172631.2:c.220-2A>G NP_001166102.1:n.220-2A>G
NM_001172631.3:c.220-2A>G NP_001166102.1:n.220-2A>G
NM_014844.3:c.220-2A>G NP_055659.2:n.220-2A>G
NM_014844.4:c.220-2A>G NP_055659.2:n.220-2A>G
ENST00000359520.11:c.220-2A>G ENSP00000352510.7:n.220-2A>G
ENST00000558678.1:c.220-2A>G ENSP00000453671.1:n.220-2A>G
ENST00000561228.1:n.348-2A>G
XM_005268246.2:c.220-2A>G XP_005268303.1:n.220-2A>G
XM_011537419.1:c.220-2A>G XP_011535721.1:n.220-2A>G