Canonical Allele Identifier: CA426124783
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.48915886A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688747A>G , CM000664.2:g.48688747A>G GRCh38
NC_000002.11:g.48915886A>G , CM000664.1:g.48915886A>G GRCh37
NC_000002.10:g.48769390A>G NCBI36
NG_008193.1:g.71995T>C
NG_033050.1:g.163823A>G
NG_008193.2:g.71995T>C
NG_033050.2:g.163823A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.1050T>C (LHCGR) MANE Select ENSP00000294954.6:p.Phe350=
ENST00000294954.11:c.1050T>C (LHCGR) ENSP00000294954.6:p.Phe350=
ENST00000401907.5:c.948-608T>C (LHCGR) ENSP00000385406.1:n.948-608T>C
ENST00000402114.6:c.3441+17067A>G (STON1-GTF2A1L) ENSP00000385701.1:n.3441+17067A>G
ENST00000403273.5:c.948-164T>C (LHCGR) ENSP00000385847.1:n.948-164T>C
ENST00000405626.5:c.969T>C (LHCGR) ENSP00000386033.1:p.Phe323=
ENST00000508440.1:c.276+17067A>G (GTF2A1L) ENSP00000421474.1:n.276+17067A>G
ENST00000602369.3:c.*220+5477T>C ENSP00000473498.1:n.*220+5477T>C
NM_000233.3:c.1050T>C (LHCGR) NP_000224.2:p.Phe350=
NM_001198593.1:c.3441+17067A>G (STON1-GTF2A1L) NP_001185522.1:n.3441+17067A>G
XM_005264309.2:c.93T>C (LHCGR) XP_005264366.1:p.Phe31=
XM_006712015.2:c.120T>C (LHCGR) XP_006712078.1:p.Phe40=
XM_011532828.1:c.975T>C (LHCGR) XP_011531130.1:p.Phe325=
XM_011532829.1:c.789T>C (LHCGR) XP_011531131.1:p.Phe263=
XM_011532830.1:c.708T>C (LHCGR) XP_011531132.1:p.Phe236=
XM_011532831.1:c.414T>C (LHCGR) XP_011531133.1:p.Phe138=
XM_011532832.1:c.120T>C (LHCGR) XP_011531134.1:p.Phe40=
XM_011532833.1:c.120T>C (LHCGR) XP_011531135.1:p.Phe40=
XM_011532834.1:c.93T>C (LHCGR) XP_011531136.1:p.Phe31=
XM_005264309.3:c.93T>C (LHCGR) XP_005264366.1:p.Phe31=
XM_006712015.3:c.120T>C (LHCGR) XP_006712078.1:p.Phe40=
XM_011532834.2:c.93T>C (LHCGR) XP_011531136.1:p.Phe31=
XM_017004089.1:c.795T>C (LHCGR) XP_016859578.1:p.Phe265=
XM_017004090.1:c.414T>C (LHCGR) XP_016859579.1:p.Phe138=
NM_000233.4:c.1050T>C (LHCGR) MANE Select NP_000224.2:p.Phe350=
NM_001198593.2:c.3441+17067A>G (STON1-GTF2A1L) NP_001185522.1:n.3441+17067A>G