Canonical Allele Identifier: CA263624970

Gene: PROX2 YLPM1

Linked Data

• dbSNP Id: rs1018498600
• gnomAD v2: 14-75321618-C-T
• gnomAD v3: 14-74854915-C-T
• gnomAD v4: 14-74854915-C-T
• MyVariant Identifiers: chr14:g.75321618C>T (hg19) ; chr14:g.74854915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74854915C>T , CM000676.2:g.74854915C>T	GRCh38
NC_000014.8:g.75321618C>T , CM000676.1:g.75321618C>T	GRCh37
NC_000014.7:g.74391371C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556489.4:c.*217G>A (PROX2) MANE Select	ENSP00000451223.2:n.*217G>A
ENST00000673765.1:c.*217G>A (PROX2)	ENSP00000501015.1:n.*217G>A
ENST00000553381.1:n.238-302C>T (YLPM1)
ENST00000554107.2:c.206-302C>T (YLPM1)
ENST00000556084.6:c.1315G>A (PROX2)	ENSP00000451463.2:n.1315G>A
ENST00000556489.3:c.1996G>A (PROX2)	ENSP00000451223.2:n.1996G>A
NM_001080408.2:c.1315G>A (PROX2)	NP_001073877.2:n.1315G>A
NM_001243007.1:c.1996G>A (PROX2)	NP_001229936.1:n.1996G>A
XM_005267543.2:c.*217G>A (PROX2)	XP_005267600.1:n.*217G>A
NM_001080408.3:c.*217G>A (PROX2)	NP_001073877.2:n.*217G>A
NM_001243007.2:c.*217G>A (PROX2) MANE Select	NP_001229936.1:n.*217G>A
NM_001384314.1:c.*217G>A (PROX2)	NP_001371243.1:n.*217G>A
NR_169190.1:n.2621G>A (PROX2)