Canonical Allele Identifier: CA2147233244
Community Standard Title: NM_001243007.2(PROX2):c.1305+1790A=
Gene: PROX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74860740T= , CM000676.2:g.74860740T= GRCh38
NC_000014.8:g.75327443T= , CM000676.1:g.75327443T= GRCh37
NC_000014.7:g.74397196T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001243007.2:c.1305+1790A= MANE Select NP_001229936.1:n.1305+1790A=
ENST00000556489.4:c.1305+1790A= MANE Select ENSP00000451223.2:n.1305+1790A=
NM_001080408.2:c.732+2363A= NP_001073877.2:n.732+2363A=
NM_001080408.3:c.732+2363A= NP_001073877.2:n.732+2363A=
NM_001243007.1:c.1305+1790A= NP_001229936.1:n.1305+1790A=
NM_001384314.1:c.1305+1790A= NP_001371243.1:n.1305+1790A=
NR_169190.1:n.1807+1790A=
ENST00000556084.6:c.732+2363A= ENSP00000451463.2:n.732+2363A=
ENST00000556489.3:c.1305+1790A= ENSP00000451223.2:n.1305+1790A=
ENST00000673765.1:c.732+2363A= ENSP00000501015.1:n.732+2363A=
XM_005267543.2:c.1311+471A= XP_005267600.1:n.1311+471A=
XM_005267543.4:c.1311+471A= XP_005267600.1:n.1311+471A=
XM_017021222.1:c.*1769A= XP_016876711.1:n.*1769A=