Canonical Allele Identifier: CA2695213750
Gene: RAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593586_36593588delinsCTT , CM000673.2:g.36593586_36593588delinsCTT GRCh38
NC_000011.9:g.36615136_36615138delinsCTT , CM000673.1:g.36615136_36615138delinsCTT GRCh37
NC_000011.8:g.36571712_36571714delinsCTT NCBI36
NG_007573.1:g.9649_9651delinsAAG , LRG_99:g.9649_9651delinsAAG
NG_033154.1:g.4094_4096delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000527033.6:c.581_583delinsAAG ENSP00000436895.2:p.Ser194Ter
ENST00000529083.2:c.581_583delinsAAG ENSP00000436327.2:p.Ser194Ter
ENST00000532616.2:c.581_583delinsAAG ENSP00000432174.2:p.Ser194Ter
ENST00000311485.8:c.581_583delinsAAG MANE Select ENSP00000308620.4:p.Ser194Ter
ENST00000311485.7:c.581_583delinsAAG ENSP00000308620.3:p.Ser194Ter
ENST00000524423.1:n.131+4514_131+4516delinsAAG
ENST00000618712.4:c.581_583delinsAAG ENSP00000478672.1:p.Ser194Ter
NM_000536.3:c.581_583delinsAAG NP_000527.2:p.Ser194Ter
NM_001243785.1:c.581_583delinsAAG NP_001230714.1:p.Ser194Ter
NM_001243786.1:c.581_583delinsAAG NP_001230715.1:p.Ser194Ter
NM_000536.4:c.581_583delinsAAG MANE Select NP_000527.2:p.Ser194Ter
NM_001243785.2:c.581_583delinsAAG NP_001230714.1:p.Ser194Ter
NM_001243786.2:c.581_583delinsAAG NP_001230715.1:p.Ser194Ter