Allele Registry

Canonical Allele Identifier: CA13964679

Gene: PROX2 HGNC NCBI
YLPM1 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr14:g.74856091G>A

GRCh37 chr14:g.75322794G>A

Linked Data - Sequence & Population

gnomAD v2:

14:75322794 G / A

gnomAD v3:

14:74856091 G / A

gnomAD v4:

chr14-74856091-G-A

Joint Max Group AF 0.8956702 (AFR)

Genomes Max Group AF 0.8956702 (AFR)

Exomes Max Group AF 0.19701419 (NFE)

Linked Data - NCBI & NCI

dbSNP:

8014204

Genomic Alleles

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

Transcript Alleles

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

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