Canonical Allele Identifier: CA5650645

Gene: PAX2

Linked Data

• dbSNP Id: rs371041678
• ExAC: 10:102509534 G / A
• gnomAD v2: 10-102509534-G-A
• gnomAD v3: 10-100749777-G-A
• gnomAD v4: 10-100749777-G-A
• COSMIC: COSM4011045 ; COSM4011046
• MyVariant Identifiers: chr10:g.102509534G>A (hg19) ; chr10:g.100749777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749777G>A , CM000672.2:g.100749777G>A	GRCh38
NC_000010.10:g.102509534G>A , CM000672.1:g.102509534G>A	GRCh37
NC_000010.9:g.102499524G>A	NCBI36
NG_008680.1:g.9067G>A
NG_008680.2:g.19069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.168G>A	ENSP00000516729.1:p.Gly56=
ENST00000707079.1:c.75G>A	ENSP00000516730.1:p.Gly25=
ENST00000355243.8:c.75G>A MANE Select	ENSP00000347385.3:p.Gly25=
ENST00000427256.6:c.75G>A	ENSP00000398652.2:p.Gly25=
ENST00000679374.1:c.57G>A	ENSP00000506041.1:p.Gly19=
ENST00000355243.7:c.75G>A	ENSP00000347385.2:p.Gly25=
ENST00000361791.7:c.72G>A	ENSP00000355069.4:p.Gly24=
ENST00000370296.6:c.75G>A	ENSP00000359319.3:p.Gly25=
ENST00000427256.5:c.75G>A	ENSP00000398652.1:p.Gly25=
ENST00000428433.5:c.75G>A	ENSP00000396259.1:p.Gly25=
ENST00000483202.2:n.1077G>A
ENST00000553492.5:n.131+14044G>A
ENST00000554172.2:c.87G>A	ENSP00000452489.2:p.Gly29=
ENST00000554363.2:n.125+3474G>A
NM_000278.3:c.75G>A	NP_000269.2:p.Gly25=
NM_001304569.1:c.168G>A	NP_001291498.1:p.Gly56=
NM_003987.3:c.75G>A	NP_003978.2:p.Gly25=
NM_003988.3:c.75G>A	NP_003979.2:p.Gly25=
NM_003989.3:c.75G>A	NP_003980.2:p.Gly25=
NM_003990.3:c.75G>A	NP_003981.2:p.Gly25=
NM_000278.4:c.75G>A	NP_000269.3:p.Gly25=
NM_003987.4:c.75G>A	NP_003978.3:p.Gly25=
NM_003988.4:c.75G>A	NP_003979.2:p.Gly25=
NM_003989.4:c.75G>A	NP_003980.3:p.Gly25=
NM_003990.4:c.75G>A	NP_003981.3:p.Gly25=
NM_000278.5:c.75G>A MANE Select	NP_000269.3:p.Gly25=
NM_001304569.2:c.168G>A	NP_001291498.1:p.Gly56=
NM_003987.5:c.75G>A	NP_003978.3:p.Gly25=
NM_003988.5:c.75G>A	NP_003979.2:p.Gly25=
NM_003989.5:c.75G>A	NP_003980.3:p.Gly25=
NM_003990.5:c.75G>A	NP_003981.3:p.Gly25=