Canonical Allele Identifier: CA323224741
Gene: TCN2 HGNC NCBI
PES1 HGNC NCBI

Linked Data

dbSNP Id: rs879700722
gnomAD v2: 22-31002875-A-AGTACC
gnomAD v3: 22-30606888-A-AGTACC
gnomAD v4: 22-30606888-A-AGTACC
MyVariant Identifiers: chr22:g.31002875_31002876insGTACC (hg19) chr22:g.30606888_30606889insGTACC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30606890_30606894dup , CM000684.2:g.30606890_30606894dup GRCh38
NC_000022.10:g.31002877_31002881dup , CM000684.1:g.31002877_31002881dup GRCh37
NC_000022.9:g.29332877_29332881dup NCBI36
NG_007263.1:g.4717_4721dup , LRG_116:g.4717_4721dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000215838.7:c.-442_-438dup (TCN2) ENSP00000215838.3:n.-442_-438dup
ENST00000402281.5:c.-802_-798dup (PES1) ENSP00000384366.1:n.-802_-798dup
ENST00000405677.5:c.-849_-845dup (PES1) ENSP00000385654.1:n.-849_-845dup
ENST00000492986.1:n.166_170dup (PES1)
NM_001282327.1:c.-802_-798dup (PES1) NP_001269256.1:n.-802_-798dup
NM_001282328.1:c.-849_-845dup (PES1) NP_001269257.1:n.-849_-845dup
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