Canonical Allele Identifier: CA9975581

Gene: PCMTD2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.64260200C>G , CM000682.2:g.64260200C>G	GRCh38
NC_000020.10:g.62891553C>G , CM000682.1:g.62891553C>G	GRCh37
NC_000020.9:g.62361997C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018257.3:c.235C>G MANE Select	NP_060727.2:p.Gln79Glu
ENST00000308824.11:c.235C>G MANE Select	ENSP00000307854.6:p.Gln79Glu
NM_001104925.1:c.235C>G	NP_001098395.1:p.Gln79Glu
NM_001104925.2:c.235C>G	NP_001098395.1:p.Gln79Glu
NM_018257.2:c.235C>G	NP_060727.2:p.Gln79Glu
ENST00000299468.11:c.235C>G	ENSP00000299468.7:p.Gln79Glu
ENST00000299468.12:c.235C>G	ENSP00000299468.7:p.Gln79Glu
ENST00000308824.10:c.235C>G	ENSP00000307854.6:p.Gln79Glu
ENST00000369758.8:c.235C>G	ENSP00000358773.3:p.Gln79Glu
ENST00000608844.1:c.116C>G
ENST00000609372.1:c.213+22C>G	ENSP00000477398.1:n.213+22C>G
ENST00000609764.1:c.235C>G	ENSP00000477252.1:p.Gln79Glu
ENST00000610074.1:c.235C>G	ENSP00000477110.1:p.Gln79Glu
ENST00000610196.1:c.235C>G	ENSP00000476878.1:p.Gln79Glu