Canonical Allele Identifier: CA393235201
Community Standard Title: NM_001080462.3(TMEM202):c.612G>A (p.Met204Ile)
Gene: TMEM202 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72407210G>A , CM000677.2:g.72407210G>A GRCh38
NC_000015.9:g.72699551G>A , CM000677.1:g.72699551G>A GRCh37
NC_000015.8:g.70486605G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001080462.3:c.612G>A MANE Select NP_001073931.1:p.Met204Ile
ENST00000341689.4:c.612G>A MANE Select ENSP00000340212.3:p.Met204Ile
NM_001080462.1:c.612G>A NP_001073931.1:p.Met204Ile
NM_001080462.2:c.612G>A NP_001073931.1:p.Met204Ile
NR_148418.1:n.370G>A
NR_148418.2:n.378G>A
NR_148419.1:n.245+459G>A
NR_148419.2:n.253+459G>A
ENST00000341689.3:c.612G>A ENSP00000340212.3:p.Met204Ile
ENST00000567679.1:c.*45+459G>A ENSP00000456083.1:n.*45+459G>A
ENST00000568167.5:c.*170G>A ENSP00000457632.1:n.*170G>A
ENST00000649825.1:c.279G>A ENSP00000497819.1:p.Met93Ile
XM_011521497.1:c.495G>A XP_011519799.1:p.Met165Ile
XM_011521497.2:c.495G>A XP_011519799.1:p.Met165Ile
XM_011521498.1:c.487+459G>A XP_011519800.1:n.487+459G>A
XM_011521499.1:c.279G>A XP_011519801.1:p.Met93Ile
XM_011521499.2:c.279G>A XP_011519801.1:p.Met93Ile
XM_011521500.1:c.279G>A XP_011519802.1:p.Met93Ile
XM_024449910.1:c.487+459G>A XP_024305678.1:n.487+459G>A