Canonical Allele Identifier: CA2147231048
Community Standard Title: NM_001243007.2(PROX2):c.1608+710C=

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74856091G= , CM000676.2:g.74856091G= GRCh38
NC_000014.8:g.75322794G= , CM000676.1:g.75322794G= GRCh37
NC_000014.7:g.74392547G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001243007.2:c.1608+710C= (PROX2) MANE Select NP_001229936.1:n.1608+710C=
ENST00000556489.4:c.1608+710C= (PROX2) MANE Select ENSP00000451223.2:n.1608+710C=
NM_001080408.2:c.927+710C= (PROX2) NP_001073877.2:n.927+710C=
NM_001080408.3:c.927+710C= (PROX2) NP_001073877.2:n.927+710C=
NM_001243007.1:c.1608+710C= (PROX2) NP_001229936.1:n.1608+710C=
NM_001384314.1:c.1608+710C= (PROX2) NP_001371243.1:n.1608+710C=
NR_169190.1:n.2233+710C= (PROX2)
ENST00000554107.2:c.1080G= (YLPM1)
ENST00000556084.6:c.927+710C= (PROX2) ENSP00000451463.2:n.927+710C=
ENST00000556489.3:c.1608+710C= (PROX2) ENSP00000451223.2:n.1608+710C=
ENST00000673765.1:c.927+710C= (PROX2) ENSP00000501015.1:n.927+710C=
XM_005267543.2:c.1608+710C= (PROX2) XP_005267600.1:n.1608+710C=
XM_005267543.4:c.1608+710C= (PROX2) XP_005267600.1:n.1608+710C=