Canonical Allele Identifier: CA378257678

Gene: PAX2

Linked Data

• gnomAD v4: 10-100749874-C-G
• MyVariant Identifiers: chr10:g.102509631C>G (hg19) ; chr10:g.100749874C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749874C>G , CM000672.2:g.100749874C>G	GRCh38
NC_000010.10:g.102509631C>G , CM000672.1:g.102509631C>G	GRCh37
NC_000010.9:g.102499621C>G	NCBI36
NG_008680.1:g.9164C>G
NG_008680.2:g.19166C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.265C>G	ENSP00000516729.1:p.Leu89Val
ENST00000707079.1:c.172C>G	ENSP00000516730.1:p.Leu58Val
ENST00000355243.8:c.172C>G MANE Select	ENSP00000347385.3:p.Leu58Val
ENST00000427256.6:c.172C>G	ENSP00000398652.2:p.Leu58Val
ENST00000679374.1:c.154C>G	ENSP00000506041.1:p.Leu52Val
ENST00000355243.7:c.172C>G	ENSP00000347385.2:p.Leu58Val
ENST00000361791.7:c.169C>G	ENSP00000355069.4:p.Leu57Val
ENST00000370296.6:c.172C>G	ENSP00000359319.3:p.Leu58Val
ENST00000427256.5:c.172C>G	ENSP00000398652.1:p.Leu58Val
ENST00000428433.5:c.172C>G	ENSP00000396259.1:p.Leu58Val
ENST00000483202.2:n.1174C>G
ENST00000553492.5:n.131+14141C>G
ENST00000554172.2:c.184C>G	ENSP00000452489.2:p.Leu62Val
ENST00000554363.2:n.125+3571C>G
NM_000278.3:c.172C>G	NP_000269.2:p.Leu58Val
NM_001304569.1:c.265C>G	NP_001291498.1:p.Leu89Val
NM_003987.3:c.172C>G	NP_003978.2:p.Leu58Val
NM_003988.3:c.172C>G	NP_003979.2:p.Leu58Val
NM_003989.3:c.172C>G	NP_003980.2:p.Leu58Val
NM_003990.3:c.172C>G	NP_003981.2:p.Leu58Val
NM_000278.4:c.172C>G	NP_000269.3:p.Leu58Val
NM_003987.4:c.172C>G	NP_003978.3:p.Leu58Val
NM_003988.4:c.172C>G	NP_003979.2:p.Leu58Val
NM_003989.4:c.172C>G	NP_003980.3:p.Leu58Val
NM_003990.4:c.172C>G	NP_003981.3:p.Leu58Val
NM_000278.5:c.172C>G MANE Select	NP_000269.3:p.Leu58Val
NM_001304569.2:c.265C>G	NP_001291498.1:p.Leu89Val
NM_003987.5:c.172C>G	NP_003978.3:p.Leu58Val
NM_003988.5:c.172C>G	NP_003979.2:p.Leu58Val
NM_003989.5:c.172C>G	NP_003980.3:p.Leu58Val
NM_003990.5:c.172C>G	NP_003981.3:p.Leu58Val