Canonical Allele Identifier: CA595645730

Gene: PAX2

Linked Data

• dbSNP Id: rs1301628464
• gnomAD v2: 10-102509601-G-GGT
• gnomAD v3: 10-100749844-G-GGT
• gnomAD v4: 10-100749844-G-GGT
• MyVariant Identifiers: chr10:g.102509601_102509602insGT (hg19) ; chr10:g.100749844_100749845insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749848_100749849dup , CM000672.2:g.100749848_100749849dup	GRCh38
NC_000010.10:g.102509605_102509606dup , CM000672.1:g.102509605_102509606dup	GRCh37
NC_000010.9:g.102499595_102499596dup	NCBI36
NG_008680.1:g.9138_9139dup
NG_008680.2:g.19140_19141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.239_240dup	ENSP00000516729.1:p.Arg81CysfsTer?
ENST00000707079.1:c.146_147dup	ENSP00000516730.1:p.Arg50CysfsTer?
ENST00000355243.8:c.146_147dup MANE Select	ENSP00000347385.3:p.Arg50CysfsTer?
ENST00000427256.6:c.146_147dup	ENSP00000398652.2:p.Arg50CysfsTer?
ENST00000679374.1:c.128_129dup	ENSP00000506041.1:p.Arg44CysfsTer?
ENST00000355243.7:c.146_147dup	ENSP00000347385.2:p.Arg50CysfsTer?
ENST00000361791.7:c.143_144dup	ENSP00000355069.4:p.Arg49CysfsTer?
ENST00000370296.6:c.146_147dup	ENSP00000359319.3:p.Arg50CysfsTer?
ENST00000427256.5:c.146_147dup	ENSP00000398652.1:p.Arg50CysfsTer?
ENST00000428433.5:c.146_147dup	ENSP00000396259.1:p.Arg50CysfsTer?
ENST00000483202.2:n.1148_1149dup
ENST00000553492.5:n.131+14115_131+14116dup
ENST00000554172.2:c.158_159dup	ENSP00000452489.2:p.Arg54CysfsTer?
ENST00000554363.2:n.125+3545_125+3546dup
NM_000278.3:c.146_147dup	NP_000269.2:p.Arg50CysfsTer?
NM_001304569.1:c.239_240dup	NP_001291498.1:p.Arg81CysfsTer?
NM_003987.3:c.146_147dup	NP_003978.2:p.Arg50CysfsTer?
NM_003988.3:c.146_147dup	NP_003979.2:p.Arg50CysfsTer?
NM_003989.3:c.146_147dup	NP_003980.2:p.Arg50CysfsTer?
NM_003990.3:c.146_147dup	NP_003981.2:p.Arg50CysfsTer?
NM_000278.4:c.146_147dup	NP_000269.3:p.Arg50CysfsTer?
NM_003987.4:c.146_147dup	NP_003978.3:p.Arg50CysfsTer?
NM_003988.4:c.146_147dup	NP_003979.2:p.Arg50CysfsTer?
NM_003989.4:c.146_147dup	NP_003980.3:p.Arg50CysfsTer?
NM_003990.4:c.146_147dup	NP_003981.3:p.Arg50CysfsTer?
NM_000278.5:c.146_147dup MANE Select	NP_000269.3:p.Arg50CysfsTer?
NM_001304569.2:c.239_240dup	NP_001291498.1:p.Arg81CysfsTer?
NM_003987.5:c.146_147dup	NP_003978.3:p.Arg50CysfsTer?
NM_003988.5:c.146_147dup	NP_003979.2:p.Arg50CysfsTer?
NM_003989.5:c.146_147dup	NP_003980.3:p.Arg50CysfsTer?
NM_003990.5:c.146_147dup	NP_003981.3:p.Arg50CysfsTer?