Canonical Allele Identifier: CA595615055

Gene: PAX2

Linked Data

• dbSNP Id: rs1226202635
• gnomAD v2: 10-102509245-T-TC
• gnomAD v3: 10-100749488-T-TC
• gnomAD v4: 10-100749488-T-TC
• MyVariant Identifiers: chr10:g.102509245_102509246insC (hg19) ; chr10:g.100749488_100749489insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749494dup , CM000672.2:g.100749494dup	GRCh38
NC_000010.10:g.102509251dup , CM000672.1:g.102509251dup	GRCh37
NC_000010.9:g.102499241dup	NCBI36
NG_008680.1:g.8784dup
NG_008680.2:g.18786dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.137-252dup	ENSP00000516729.1:n.137-252dup
ENST00000707079.1:c.44-252dup	ENSP00000516730.1:n.44-252dup
ENST00000355243.8:c.44-252dup MANE Select	ENSP00000347385.3:n.44-252dup
ENST00000427256.6:c.44-252dup	ENSP00000398652.2:n.44-252dup
ENST00000679374.1:c.26-252dup	ENSP00000506041.1:n.26-252dup
ENST00000355243.7:c.44-252dup	ENSP00000347385.2:n.44-252dup
ENST00000361791.7:c.44-255dup	ENSP00000355069.4:n.44-255dup
ENST00000370296.6:c.44-252dup	ENSP00000359319.3:n.44-252dup
ENST00000427256.5:c.44-252dup	ENSP00000398652.1:n.44-252dup
ENST00000428433.5:c.44-252dup	ENSP00000396259.1:n.44-252dup
ENST00000483202.2:n.1046-252dup
ENST00000553492.5:n.131+13761dup
ENST00000554172.2:c.-197dup	ENSP00000452489.2:n.-197dup
ENST00000554363.2:n.125+3191dup
NM_000278.3:c.44-252dup	NP_000269.2:n.44-252dup
NM_001304569.1:c.137-252dup	NP_001291498.1:n.137-252dup
NM_003987.3:c.44-252dup	NP_003978.2:n.44-252dup
NM_003988.3:c.44-252dup	NP_003979.2:n.44-252dup
NM_003989.3:c.44-252dup	NP_003980.2:n.44-252dup
NM_003990.3:c.44-252dup	NP_003981.2:n.44-252dup
NM_000278.4:c.44-252dup	NP_000269.3:n.44-252dup
NM_003987.4:c.44-252dup	NP_003978.3:n.44-252dup
NM_003988.4:c.44-252dup	NP_003979.2:n.44-252dup
NM_003989.4:c.44-252dup	NP_003980.3:n.44-252dup
NM_003990.4:c.44-252dup	NP_003981.3:n.44-252dup
NM_000278.5:c.44-252dup MANE Select	NP_000269.3:n.44-252dup
NM_001304569.2:c.137-252dup	NP_001291498.1:n.137-252dup
NM_003987.5:c.44-252dup	NP_003978.3:n.44-252dup
NM_003988.5:c.44-252dup	NP_003979.2:n.44-252dup
NM_003989.5:c.44-252dup	NP_003980.3:n.44-252dup
NM_003990.5:c.44-252dup	NP_003981.3:n.44-252dup