Canonical Allele Identifier: CA1592604
Gene: C2orf71 HGNC NCBI

Linked Data

ClinVar Variation Id: 335668
dbSNP Id: rs114057537

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073583C>T , CM000664.2:g.29073583C>T GRCh38
NC_000002.11:g.29296449C>T , CM000664.1:g.29296449C>T GRCh37
NC_000002.10:g.29149953C>T NCBI36
NG_021427.1:g.5679G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.679G>A MANE Select ENSP00000332809.4:p.Glu227Lys
ENST00000331664.5:n.679G>A ENSP00000332809.4:p.Glu227Lys
NM_001029883.2:n.679G>A NP_001025054.1:p.Glu227Lys
XM_011532826.1:c.679G>A XP_011531128.1:p.Glu227Lys
XR_939901.1:n.185+4416C>T
XR_939902.1:n.173+4428C>T
NM_001029883.3:c.679G>A MANE Select NP_001025054.1:p.Glu227Lys