Canonical Allele Identifier: CA385956914

Gene: TMTC2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.82857428A>T , CM000674.2:g.82857428A>T	GRCh38
NC_000012.11:g.83251207A>T , CM000674.1:g.83251207A>T	GRCh37
NC_000012.10:g.81775338A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_152588.3:c.502A>T MANE Select	NP_689801.1:p.Thr168Ser
ENST00000321196.8:c.502A>T MANE Select	ENSP00000322300.3:p.Thr168Ser
NM_001320321.1:c.-81-38390A>T	NP_001307250.1:n.-81-38390A>T
NM_001320321.2:c.-81-38390A>T	NP_001307250.1:n.-81-38390A>T
NM_001320322.1:c.502A>T	NP_001307251.1:p.Thr168Ser
NM_001320322.2:c.502A>T	NP_001307251.1:p.Thr168Ser
NM_152588.1:c.502A>T	NP_689801.1:p.Thr168Ser
NM_152588.2:c.502A>T	NP_689801.1:p.Thr168Ser
ENST00000321196.7:c.502A>T	ENSP00000322300.3:p.Thr168Ser
ENST00000546590.2:c.84-38390A>T	ENSP00000448630.2:n.84-38390A>T
ENST00000548305.5:c.502A>T	ENSP00000448292.1:p.Thr168Ser
ENST00000549919.1:c.484A>T	ENSP00000447609.1:p.Thr162Ser
ENST00000551915.5:n.1209A>T
XM_011537978.1:c.490A>T	XP_011536280.1:p.Thr164Ser
XM_011537979.1:c.-81-38390A>T	XP_011536281.1:n.-81-38390A>T
XM_017018884.2:c.151A>T	XP_016874373.1:p.Thr51Ser
XM_024448863.1:c.151A>T	XP_024304631.1:p.Thr51Ser
XR_001748601.1:n.1137A>T