Canonical Allele Identifier: CA1315898046
Gene: C2orf88 HGNC NCBI

Linked Data

dbSNP Id: rs1043948514

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190120977T>C , CM000664.2:g.190120977T>C GRCh38
NC_000002.11:g.190985703T>C , CM000664.1:g.190985703T>C GRCh37
NC_000002.10:g.190693948T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000450357.5:c.-290+30007T>C ENSP00000394370.1:n.-290+30007T>C
ENST00000490033.5:n.226+25375T>C
ENST00000495546.1:n.271+40954T>C
XM_005246905.1:c.-290+40954T>C XP_005246962.1:n.-290+40954T>C
XM_011511982.1:c.-290+30007T>C XP_011510284.1:n.-290+30007T>C
XM_011511983.1:c.-290+25375T>C XP_011510285.1:n.-290+25375T>C
XM_011511984.1:c.-290+25375T>C XP_011510286.1:n.-290+25375T>C
XM_011511985.1:c.-290+30007T>C XP_011510287.1:n.-290+30007T>C
XM_011511986.1:c.-165+40954T>C XP_011510288.1:n.-165+40954T>C
XM_011511984.3:c.-290+25375T>C XP_011510286.1:n.-290+25375T>C
XM_011511985.3:c.-290+30007T>C XP_011510287.1:n.-290+30007T>C
XM_011511986.2:c.-165+40954T>C XP_011510288.1:n.-165+40954T>C