Canonical Allele Identifier: CA2580085174
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2078717
ClinVar RCV Id: RCV002988783

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13865935_13865938delinsAGGG , CM000674.2:g.13865935_13865938delinsAGGG GRCh38
NC_000012.11:g.14018869_14018872delinsAGGG , CM000674.1:g.14018869_14018872delinsAGGG GRCh37
NC_000012.10:g.13910136_13910139delinsAGGG NCBI36
NG_031854.1:g.119151_119154delinsCCCT
NG_031854.2:g.121075_121078delinsCCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.271_274delinsCCCT MANE Select ENSP00000477455.1:p.Asp91_Arg92delinsProTrp
ENST00000630791.2:c.271_274delinsCCCT ENSP00000486677.2:p.Asp91_Arg92delinsProTrp
ENST00000609686.3:c.271_274delinsCCCT ENSP00000477455.1:p.Asp91_Arg92delinsProTrp
NM_000834.3:c.271_274delinsCCCT NP_000825.2:p.Asp91_Arg92delinsProTrp
XM_011520628.1:c.271_274delinsCCCT XP_011518930.1:p.Asp91_Arg92delinsProTrp
XM_011520629.1:c.271_274delinsCCCT XP_011518931.1:p.Asp91_Arg92delinsProTrp
XM_011520630.1:c.271_274delinsCCCT XP_011518932.1:p.Asp91_Arg92delinsProTrp
NM_000834.4:c.271_274delinsCCCT NP_000825.2:p.Asp91_Arg92delinsProTrp
XM_011520628.2:c.271_274delinsCCCT XP_011518930.1:p.Asp91_Arg92delinsProTrp
XM_011520629.2:c.271_274delinsCCCT XP_011518931.1:p.Asp91_Arg92delinsProTrp
XM_017019219.2:c.271_274delinsCCCT XP_016874708.1:p.Asp91_Arg92delinsProTrp
NM_000834.5:c.271_274delinsCCCT MANE Select NP_000825.2:p.Asp91_Arg92delinsProTrp