Canonical Allele Identifier: CA2209004

Gene: AGXT

Linked Data

• dbSNP Id: rs1559567836
• ExAC: 2:241808491 T / TCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
• gnomAD v2: 2-241808491-T-TCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
• gnomAD v3: 2-240869074-T-TCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
• gnomAD v4: 2-240869074-T-TCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
• MyVariant Identifiers: chr2:g.241808491_241808492insCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA (hg19) ; chr2:g.240869074_240869075insCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.2:g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	GRCh38
NC_000002.11:g.241808530_241808531insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC , CM000664.1:g.241808530_241808531insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	GRCh37
NC_000002.10:g.241457203_241457204insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	NCBI36
NG_008005.1:g.5369_5370insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC MANE Select	ENSP00000302620.3:n.166-57_166-56insTTCCT...
ENST00000307503.3:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	ENSP00000302620.3:n.166-57_166-56insTTCCT...
ENST00000472436.1:n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
NM_000030.2:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	NP_000021.1:n.166-57_166-56insTTCCTCACTCG...
XR_924060.1:n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
NM_000030.3:c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC MANE Select	NP_000021.1:n.166-57_166-56insTTCCTCACTCG...