Canonical Allele Identifier: CA2579519974
Gene: AGPAT2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136676666_136676667del , CM000671.2:g.136676666_136676667del GRCh38
NC_000009.11:g.139571118_139571119del , CM000671.1:g.139571118_139571119del GRCh37
NC_000009.10:g.138690939_138690940del NCBI36
NG_008090.1:g.15794_15795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.507_508del MANE Select ENSP00000360761.2:p.Tyr170SerfsTer15
ENST00000371694.7:c.492+295_492+296del ENSP00000360759.3:n.492+295_492+296del
ENST00000371696.6:c.507_508del ENSP00000360761.2:p.Tyr170SerfsTer15
ENST00000472820.1:n.435_436del
ENST00000538402.1:c.507_508del ENSP00000438919.1:p.Tyr170SerfsTer15
NM_001012727.1:c.492+295_492+296del NP_001012745.1:n.492+295_492+296del
NM_006412.3:c.507_508del NP_006403.2:p.Tyr170SerfsTer15
NM_006412.4:c.507_508del MANE Select NP_006403.2:p.Tyr170SerfsTer15
NM_001012727.2:c.492+295_492+296del NP_001012745.1:n.492+295_492+296del
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