Canonical Allele Identifier: CA13726955
Gene: TMTC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.82770777G>A , CM000674.2:g.82770777G>A GRCh38
NC_000012.11:g.83164556G>A , CM000674.1:g.83164556G>A GRCh37
NC_000012.10:g.81688687G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321196.8:c.83+83108G>A MANE Select ENSP00000322300.3:n.83+83108G>A
ENST00000321196.7:c.83+83108G>A ENSP00000322300.3:n.83+83108G>A
ENST00000546590.2:c.83+83108G>A ENSP00000448630.2:n.83+83108G>A
ENST00000548305.5:c.83+83108G>A ENSP00000448292.1:n.83+83108G>A
ENST00000549919.1:c.65+9841G>A ENSP00000447609.1:n.65+9841G>A
ENST00000551915.5:n.790+83108G>A
NM_152588.1:c.83+83108G>A NP_689801.1:n.83+83108G>A
XM_011537979.1:c.-82+83108G>A XP_011536281.1:n.-82+83108G>A
NM_001320321.1:c.-82+83108G>A NP_001307250.1:n.-82+83108G>A
NM_001320322.1:c.83+83108G>A NP_001307251.1:n.83+83108G>A
NM_152588.2:c.83+83108G>A NP_689801.1:n.83+83108G>A
XM_017018884.2:c.-269+13651G>A XP_016874373.1:n.-269+13651G>A
XM_024448863.1:c.-269+13651G>A XP_024304631.1:n.-269+13651G>A
XR_001748601.1:n.718+83108G>A
NM_152588.3:c.83+83108G>A MANE Select NP_689801.1:n.83+83108G>A
NM_001320321.2:c.-82+83108G>A NP_001307250.1:n.-82+83108G>A
NM_001320322.2:c.83+83108G>A NP_001307251.1:n.83+83108G>A