Canonical Allele Identifier: CA116925508
Community Standard Title: NM_031900.4(AGXT2):c.88+2165T>C
Gene: AGXT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35045640A>G , CM000667.2:g.35045640A>G GRCh38
NC_000005.9:g.35045745A>G , CM000667.1:g.35045745A>G GRCh37
NC_000005.8:g.35081502A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_031900.4:c.88+2165T>C MANE Select NP_114106.1:n.88+2165T>C
ENST00000231420.11:c.88+2165T>C MANE Select ENSP00000231420.6:n.88+2165T>C
NM_001306173.1:c.88+2165T>C NP_001293102.1:n.88+2165T>C
NM_001306173.2:c.88+2165T>C NP_001293102.1:n.88+2165T>C
NM_031900.3:c.88+2165T>C NP_114106.1:n.88+2165T>C
ENST00000231420.10:c.88+2165T>C ENSP00000231420.6:n.88+2165T>C
ENST00000505542.1:n.86+2165T>C
ENST00000510428.1:c.88+2165T>C ENSP00000422799.1:n.88+2165T>C
ENST00000618015.4:c.88+2165T>C ENSP00000479154.1:n.88+2165T>C
XM_005248337.2:c.88+2165T>C XP_005248394.1:n.88+2165T>C
XM_005248337.3:c.88+2165T>C XP_005248394.1:n.88+2165T>C
XM_005248338.2:c.88+2165T>C XP_005248395.1:n.88+2165T>C
XM_005248338.3:c.88+2165T>C XP_005248395.1:n.88+2165T>C
XM_011514077.1:c.88+2165T>C XP_011512379.1:n.88+2165T>C
XM_017009748.2:c.88+2165T>C XP_016865237.1:n.88+2165T>C