Canonical Allele Identifier: CA2209006

Gene: AGXT

Linked Data

• dbSNP Id: rs1559567833
• ExAC: 2:241808491 T / TTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
• gnomAD v2: 2-241808491-T-TTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
• gnomAD v3: 2-240869074-T-TTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
• gnomAD v4: 2-240869074-T-TTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
• MyVariant Identifiers: chr2:g.241808491_241808492insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA (hg19) ; chr2:g.240869074_240869075insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869074_240869075insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA , CM000664.2:g.240869074_240869075insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA	GRCh38
NC_000002.11:g.241808491_241808492insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA , CM000664.1:g.241808491_241808492insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA	GRCh37
NC_000002.10:g.241457164_241457165insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA	NCBI36
NG_008005.1:g.5330_5331insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.165+44_165+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA MANE Select	ENSP00000302620.3:n.165+44_165+45insTCCAC...
ENST00000307503.3:c.165+44_165+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA	ENSP00000302620.3:n.165+44_165+45insTCCAC...
ENST00000472436.1:n.185+44_185+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
NM_000030.2:c.165+44_165+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA	NP_000021.1:n.165+44_165+45insTCCACCCACAG...
XR_924060.1:n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGA
NM_000030.3:c.165+44_165+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA MANE Select	NP_000021.1:n.165+44_165+45insTCCACCCACAG...