Canonical Allele Identifier: CA322899
Gene: C10orf2 HGNC NCBI

Linked Data

ClinVar Variation Id: 214174
dbSNP Id: rs754081544

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100988947A>G , CM000672.2:g.100988947A>G GRCh38
NC_000010.10:g.102748704A>G , CM000672.1:g.102748704A>G GRCh37
NC_000010.9:g.102738694A>G NCBI36
NG_011646.1:g.3569T>C
NG_012624.1:g.6412A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000311916.8:c.737A>G MANE Select ENSP00000309595.2:p.Asn246Ser
ENST00000370228.2:c.737A>G ENSP00000359248.1:p.Asn246Ser
ENST00000643860.1:c.737A>G ENSP00000494389.1:p.Asn246Ser
ENST00000646226.1:n.59-697A>G
ENST00000311916.6:c.737A>G ENSP00000309595.2:p.Asn246Ser
ENST00000370228.1:c.737A>G ENSP00000359248.1:p.Asn246Ser
ENST00000459764.1:n.87-697A>G
ENST00000473656.5:n.65-697A>G
ENST00000476766.5:n.192-759A>G
NM_001163812.1:c.737A>G NP_001157284.1:p.Asn246Ser
NM_001163813.1:c.-119-697A>G NP_001157285.1:p.=
NM_001163814.1:c.-119-697A>G NP_001157286.1:p.=
NM_021830.4:c.737A>G NP_068602.2:p.Asn246Ser
XM_011539975.1:c.-57-759A>G XP_011538277.1:p.=
XR_945788.1:n.1570A>G
XM_011539975.2:c.-57-759A>G XP_011538277.1:p.=
XM_017016437.1:c.-564A>G XP_016871926.1:p.=
XR_001747142.1:n.911A>G
XR_001747144.1:n.911A>G
XR_002956991.1:n.911A>G
XR_945788.2:n.911A>G
NM_021830.5:c.737A>G MANE Select NP_068602.2:p.Asn246Ser
NM_001163812.2:c.737A>G NP_001157284.1:p.Asn246Ser
NM_001163813.2:c.-119-697A>G NP_001157285.1:p.=
NM_001163814.2:c.-119-697A>G NP_001157286.1:p.=
NM_001368275.1:c.-57-759A>G NP_001355204.1:p.=
NR_160738.1:n.1405A>G
NR_160739.1:n.72-697A>G
NR_160740.1:n.1405A>G
NR_160741.1:n.1405A>G
NR_160742.1:n.1405A>G