Canonical Allele Identifier: CA471215923

Gene: PAX2

Linked Data

• gnomAD v4: 10-100781319-C-A
• MyVariant Identifiers: chr10:g.102541076C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100781319C>A , CM000672.2:g.100781319C>A	GRCh38
NC_000010.10:g.102541076C>A , CM000672.1:g.102541076C>A	GRCh37
NC_000010.9:g.102531066C>A	NCBI36
NG_008680.1:g.40609C>A
NG_008680.2:g.50611C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707078.1:c.663C>A	ENSP00000516729.1:p.Ile221=
ENST00000707079.1:c.570C>A	ENSP00000516730.1:p.Ile190=
ENST00000355243.8:c.570C>A MANE Select	ENSP00000347385.3:p.Ile190=
ENST00000427256.6:c.570C>A	ENSP00000398652.2:p.Ile190=
ENST00000679374.1:c.552C>A	ENSP00000506041.1:p.Ile184=
ENST00000355243.7:c.570C>A	ENSP00000347385.2:p.Ile190=
ENST00000361791.7:c.567C>A	ENSP00000355069.4:p.Ile189=
ENST00000370296.6:c.570C>A	ENSP00000359319.3:p.Ile190=
ENST00000427256.5:c.570C>A	ENSP00000398652.1:p.Ile190=
ENST00000428433.5:c.570C>A	ENSP00000396259.1:p.Ile190=
ENST00000553492.5:n.291C>A
ENST00000554172.2:c.582C>A	ENSP00000452489.2:p.Ile194=
ENST00000554363.2:n.285C>A
NM_000278.3:c.570C>A	NP_000269.2:p.Ile190=
NM_001304569.1:c.663C>A	NP_001291498.1:p.Ile221=
NM_003987.3:c.570C>A	NP_003978.2:p.Ile190=
NM_003988.3:c.570C>A	NP_003979.2:p.Ile190=
NM_003989.3:c.570C>A	NP_003980.2:p.Ile190=
NM_003990.3:c.570C>A	NP_003981.2:p.Ile190=
NM_000278.4:c.570C>A	NP_000269.3:p.Ile190=
NM_003987.4:c.570C>A	NP_003978.3:p.Ile190=
NM_003988.4:c.570C>A	NP_003979.2:p.Ile190=
NM_003989.4:c.570C>A	NP_003980.3:p.Ile190=
NM_003990.4:c.570C>A	NP_003981.3:p.Ile190=
NM_000278.5:c.570C>A MANE Select	NP_000269.3:p.Ile190=
NM_001304569.2:c.663C>A	NP_001291498.1:p.Ile221=
NM_003987.5:c.570C>A	NP_003978.3:p.Ile190=
NM_003988.5:c.570C>A	NP_003979.2:p.Ile190=
NM_003989.5:c.570C>A	NP_003980.3:p.Ile190=
NM_003990.5:c.570C>A	NP_003981.3:p.Ile190=