Canonical Allele Identifier: CA615049452

Gene: PROX2 YLPM1

Linked Data

• dbSNP Id: rs1425831414
• gnomAD v2: 14-75321642-T-C
• gnomAD v3: 14-74854939-T-C
• gnomAD v4: 14-74854939-T-C
• MyVariant Identifiers: chr14:g.75321642T>C (hg19) ; chr14:g.74854939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74854939T>C , CM000676.2:g.74854939T>C	GRCh38
NC_000014.8:g.75321642T>C , CM000676.1:g.75321642T>C	GRCh37
NC_000014.7:g.74391395T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556489.4:c.*193A>G (PROX2) MANE Select	ENSP00000451223.2:n.*193A>G
ENST00000673765.1:c.*193A>G (PROX2)	ENSP00000501015.1:n.*193A>G
ENST00000553381.1:n.238-278T>C (YLPM1)
ENST00000554107.2:c.206-278T>C (YLPM1)
ENST00000556084.6:c.1291A>G (PROX2)	ENSP00000451463.2:n.1291A>G
ENST00000556489.3:c.1972A>G (PROX2)	ENSP00000451223.2:n.1972A>G
NM_001080408.2:c.1291A>G (PROX2)	NP_001073877.2:n.1291A>G
NM_001243007.1:c.1972A>G (PROX2)	NP_001229936.1:n.1972A>G
XM_005267543.2:c.*193A>G (PROX2)	XP_005267600.1:n.*193A>G
NM_001080408.3:c.*193A>G (PROX2)	NP_001073877.2:n.*193A>G
NM_001243007.2:c.*193A>G (PROX2) MANE Select	NP_001229936.1:n.*193A>G
NM_001384314.1:c.*193A>G (PROX2)	NP_001371243.1:n.*193A>G
NR_169190.1:n.2597A>G (PROX2)