Canonical Allele Identifier: CA2209007

Gene: AGXT

Linked Data

• ExAC: 2:241808491 T / TCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTA
• gnomAD v4: 2-240869074-T-TCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTA
• MyVariant Identifiers: chr2:g.241808491_241808492insCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC , CM000664.2:g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC	GRCh38
NC_000002.11:g.241808505_241808506insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC , CM000664.1:g.241808505_241808506insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC	GRCh37
NC_000002.10:g.241457178_241457179insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC	NCBI36
NG_008005.1:g.5344_5345insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC MANE Select	ENSP00000302620.3:n.165+58_165+59insACGGA...
ENST00000307503.3:c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC	ENSP00000302620.3:n.165+58_165+59insACGGA...
ENST00000472436.1:n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC
NM_000030.2:c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC	NP_000021.1:n.165+58_165+59insACGGAAGAGGG...
XR_924060.1:n.405+1158_405+1159insTACAGGGGTGAGACCCAGGACCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG
NM_000030.3:c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC MANE Select	NP_000021.1:n.165+58_165+59insACGGAAGAGGG...