Canonical Allele Identifier: CA349365981
Community Standard Title: NM_006554.5(MTX2):c.2T>A (p.Met1Lys)
Gene: MTX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176269631T>A , CM000664.2:g.176269631T>A GRCh38
NC_000002.11:g.177134359T>A , CM000664.1:g.177134359T>A GRCh37
NC_000002.10:g.176842605T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006554.5:c.2T>A MANE Select NP_006545.1:p.Met1Lys
ENST00000249442.11:c.2T>A MANE Select ENSP00000249442.6:p.Met1Lys
NM_001006635.2:c.-233T>A NP_001006636.1:n.-233T>A
NM_001006635.3:c.-233T>A NP_001006636.1:n.-233T>A
NM_001319097.1:c.2T>A NP_001306026.1:p.Met1Lys
NM_001319097.2:c.2T>A NP_001306026.1:p.Met1Lys
NM_001319098.1:c.2T>A NP_001306027.1:p.Met1Lys
NM_001319098.2:c.2T>A NP_001306027.1:p.Met1Lys
NM_006554.4:c.2T>A NP_006545.1:p.Met1Lys
NR_027850.1:n.237T>A
ENST00000249442.10:c.2T>A ENSP00000249442.6:p.Met1Lys
ENST00000420864.5:c.2T>A ENSP00000403545.1:p.Met1Lys
ENST00000423461.6:c.2T>A ENSP00000402204.2:p.Met1Lys
ENST00000443241.5:c.2T>A ENSP00000414176.1:p.Met1Lys
ENST00000452865.1:c.2T>A ENSP00000398757.1:p.Met1Lys
XM_011510497.1:c.-271T>A XP_011508799.1:n.-271T>A
XM_011510497.2:c.-271T>A XP_011508799.1:n.-271T>A
XM_011510498.1:c.2T>A XP_011508800.1:p.Met1Lys