Canonical Allele Identifier: CA7537966
Community Standard Title: NM_001363711.2(DUOX2):c.3185-9C>T
Gene: DUOX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45099901G>A , CM000677.2:g.45099901G>A GRCh38
NC_000015.9:g.45392099G>A , CM000677.1:g.45392099G>A GRCh37
NC_000015.8:g.43179391G>A NCBI36
NG_009447.1:g.19261C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001363711.2:c.3185-9C>T MANE Select NP_001350640.1:n.3185-9C>T
ENST00000389039.11:c.3185-9C>T MANE Select ENSP00000373691.7:n.3185-9C>T
NM_001363711.1:c.3185-9C>T NP_001350640.1:n.3185-9C>T
NM_014080.4:c.3185-9C>T NP_054799.4:n.3185-9C>T
NM_014080.5:c.3185-9C>T NP_054799.4:n.3185-9C>T
ENST00000389039.10:c.3185-9C>T ENSP00000373691.6:n.3185-9C>T
ENST00000558383.1:n.5948C>T
ENST00000560797.1:n.365-9C>T
ENST00000603300.1:c.3185-9C>T ENSP00000475084.1:n.3185-9C>T
XM_005254421.2:c.3185-9C>T XP_005254478.1:n.3185-9C>T