Canonical Allele Identifier: CA5650764

Gene: PAX2

Linked Data

• dbSNP Id: rs776164547
• ExAC: 10:102541077 C / T
• gnomAD v2: 10-102541077-C-T
• gnomAD v4: 10-100781320-C-T
• MyVariant Identifiers: chr10:g.102541077C>T (hg19) ; chr10:g.100781320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100781320C>T , CM000672.2:g.100781320C>T	GRCh38
NC_000010.10:g.102541077C>T , CM000672.1:g.102541077C>T	GRCh37
NC_000010.9:g.102531067C>T	NCBI36
NG_008680.1:g.40610C>T
NG_008680.2:g.50612C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000707078.1:c.664C>T	ENSP00000516729.1:p.Leu222=
ENST00000707079.1:c.571C>T	ENSP00000516730.1:p.Leu191=
ENST00000355243.8:c.571C>T MANE Select	ENSP00000347385.3:p.Leu191=
ENST00000427256.6:c.571C>T	ENSP00000398652.2:p.Leu191=
ENST00000679374.1:c.553C>T	ENSP00000506041.1:p.Leu185=
ENST00000355243.7:c.571C>T	ENSP00000347385.2:p.Leu191=
ENST00000361791.7:c.568C>T	ENSP00000355069.4:p.Leu190=
ENST00000370296.6:c.571C>T	ENSP00000359319.3:p.Leu191=
ENST00000427256.5:c.571C>T	ENSP00000398652.1:p.Leu191=
ENST00000428433.5:c.571C>T	ENSP00000396259.1:p.Leu191=
ENST00000553492.5:n.292C>T
ENST00000554172.2:c.583C>T	ENSP00000452489.2:p.Leu195=
ENST00000554363.2:n.286C>T
NM_000278.3:c.571C>T	NP_000269.2:p.Leu191=
NM_001304569.1:c.664C>T	NP_001291498.1:p.Leu222=
NM_003987.3:c.571C>T	NP_003978.2:p.Leu191=
NM_003988.3:c.571C>T	NP_003979.2:p.Leu191=
NM_003989.3:c.571C>T	NP_003980.2:p.Leu191=
NM_003990.3:c.571C>T	NP_003981.2:p.Leu191=
NM_000278.4:c.571C>T	NP_000269.3:p.Leu191=
NM_003987.4:c.571C>T	NP_003978.3:p.Leu191=
NM_003988.4:c.571C>T	NP_003979.2:p.Leu191=
NM_003989.4:c.571C>T	NP_003980.3:p.Leu191=
NM_003990.4:c.571C>T	NP_003981.3:p.Leu191=
NM_000278.5:c.571C>T MANE Select	NP_000269.3:p.Leu191=
NM_001304569.2:c.664C>T	NP_001291498.1:p.Leu222=
NM_003987.5:c.571C>T	NP_003978.3:p.Leu191=
NM_003988.5:c.571C>T	NP_003979.2:p.Leu191=
NM_003989.5:c.571C>T	NP_003980.3:p.Leu191=
NM_003990.5:c.571C>T	NP_003981.3:p.Leu191=