Canonical Allele Identifier: CA540752876

Gene: AGXT

Linked Data

• gnomAD v2: 2-241808460-G-GTCGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCC
• MyVariant Identifiers: chr2:g.241808460_241808461insTCGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCC (hg19) ; chr2:g.240869043_240869044insTCGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869045_240869046insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC , CM000664.2:g.240869045_240869046insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC	GRCh38
NC_000002.11:g.241808462_241808463insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC , CM000664.1:g.241808462_241808463insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC	GRCh37
NC_000002.10:g.241457135_241457136insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC	NCBI36
NG_008005.1:g.5301_5302insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC

Transcript Alleles

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