Canonical Allele Identifier: CA369409542
Community Standard Title: NM_173569.4(UBN2):c.2024+1G>A
Gene: UBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.139276148G>A , CM000669.2:g.139276148G>A GRCh38
NC_000007.13:g.138960894G>A , CM000669.1:g.138960894G>A GRCh37
NC_000007.12:g.138611434G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_173569.4:c.2024+1G>A MANE Select NP_775840.3:n.2024+1G>A
ENST00000473989.8:c.2024+1G>A MANE Select ENSP00000418648.2:n.2024+1G>A
NM_173569.3:c.2024+1G>A NP_775840.3:n.2024+1G>A
ENST00000473989.7:c.2024+1G>A ENSP00000418648.2:n.2024+1G>A
ENST00000483726.1:c.1331G>A
XM_005250249.2:c.2021+1G>A XP_005250306.2:n.2021+1G>A
XM_005250249.4:c.2021+1G>A XP_005250306.2:n.2021+1G>A
XM_006715916.2:c.1922+1G>A XP_006715979.2:n.1922+1G>A
XM_006715916.4:c.1922+1G>A XP_006715979.2:n.1922+1G>A
XM_011516002.1:c.2024+1G>A XP_011514304.1:n.2024+1G>A
XM_011516002.3:c.2024+1G>A XP_011514304.1:n.2024+1G>A
XM_011516003.1:c.2024+1G>A XP_011514305.1:n.2024+1G>A
XM_011516003.2:c.2024+1G>A XP_011514305.1:n.2024+1G>A
XM_024446704.1:c.1493+1G>A XP_024302472.1:n.1493+1G>A