Canonical Allele Identifier: CA540752877

Gene: AGXT

Linked Data

• dbSNP Id: rs1559567802
• gnomAD v2: 2-241808460-G-GTCGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCC
• gnomAD v3: 2-240869043-G-GTCGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCC
• gnomAD v4: 2-240869043-G-GTCGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCC
• MyVariant Identifiers: chr2:g.241808460_241808461insTCGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCC (hg19) ; chr2:g.240869043_240869044insTCGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869045_240869046insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC , CM000664.2:g.240869045_240869046insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC	GRCh38
NC_000002.11:g.241808462_241808463insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC , CM000664.1:g.241808462_241808463insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC	GRCh37
NC_000002.10:g.241457135_241457136insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC	NCBI36
NG_008005.1:g.5301_5302insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.165+15_165+16insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC MANE Select	ENSP00000302620.3:n.165+15_165+16insGCTCG...
ENST00000307503.3:c.165+15_165+16insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC	ENSP00000302620.3:n.165+15_165+16insGCTCG...
ENST00000472436.1:n.185+15_185+16insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC
NM_000030.2:c.165+15_165+16insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC	NP_000021.1:n.165+15_165+16insGCTCGGGGTGC...
XR_924060.1:n.405+1189_405+1190insGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGGAACATGGGTGAGACCCAGGCACCCCGAGCGA
NM_000030.3:c.165+15_165+16insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC MANE Select	NP_000021.1:n.165+15_165+16insGCTCGGGGTGC...