Canonical Allele Identifier: CA252810
Gene: IMPG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3546
dbSNP Id: rs267606874

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101275694G>C , CM000665.2:g.101275694G>C GRCh38
NC_000003.11:g.100994538G>C , CM000665.1:g.100994538G>C GRCh37
NC_000003.10:g.102477228G>C NCBI36
NG_028284.1:g.49882C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000193391.8:c.635C>G MANE Select ENSP00000193391.6:p.Ser212Ter
ENST00000193391.7:c.635C>G ENSP00000193391.6:p.Ser212Ter
NM_016247.3:c.635C>G NP_057331.2:p.Ser212Ter
XM_011512871.1:c.341C>G XP_011511173.1:p.Ser114Ter
XM_011512872.1:c.224C>G XP_011511174.1:p.Ser75Ter
NM_016247.4:c.635C>G MANE Select NP_057331.2:p.Ser212Ter