Canonical Allele Identifier: CA393235198
Community Standard Title: NM_001080462.3(TMEM202):c.612G>T (p.Met204Ile)
Gene: TMEM202 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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