Canonical Allele Identifier: CA426125176
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.48914992A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687853A>C , CM000664.2:g.48687853A>C GRCh38
NC_000002.11:g.48914992A>C , CM000664.1:g.48914992A>C GRCh37
NC_000002.10:g.48768496A>C NCBI36
NG_008193.1:g.72889T>G
NG_033050.1:g.162929A>C
NG_008193.2:g.72889T>G
NG_033050.2:g.162929A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.1944T>G (LHCGR) MANE Select ENSP00000294954.6:p.Ala648=
ENST00000294954.11:c.1944T>G (LHCGR) ENSP00000294954.6:p.Ala648=
ENST00000401907.5:c.*256T>G (LHCGR) ENSP00000385406.1:n.*256T>G
ENST00000402114.6:c.3441+16173A>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16173A>C
ENST00000403273.5:c.*688T>G (LHCGR) ENSP00000385847.1:n.*688T>G
ENST00000405626.5:c.1863T>G (LHCGR) ENSP00000386033.1:p.Ala621=
ENST00000508440.1:c.276+16173A>C (GTF2A1L) ENSP00000421474.1:n.276+16173A>C
ENST00000602369.3:c.*220+6371T>G ENSP00000473498.1:n.*220+6371T>G
NM_000233.3:c.1944T>G (LHCGR) NP_000224.2:p.Ala648=
NM_001198593.1:c.3441+16173A>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16173A>C
XM_005264309.2:c.987T>G (LHCGR) XP_005264366.1:p.Ala329=
XM_006712015.2:c.1014T>G (LHCGR) XP_006712078.1:p.Ala338=
XM_011532828.1:c.1869T>G (LHCGR) XP_011531130.1:p.Ala623=
XM_011532829.1:c.1683T>G (LHCGR) XP_011531131.1:p.Ala561=
XM_011532830.1:c.1602T>G (LHCGR) XP_011531132.1:p.Ala534=
XM_011532831.1:c.1308T>G (LHCGR) XP_011531133.1:p.Ala436=
XM_011532832.1:c.1014T>G (LHCGR) XP_011531134.1:p.Ala338=
XM_011532833.1:c.1014T>G (LHCGR) XP_011531135.1:p.Ala338=
XM_011532834.1:c.987T>G (LHCGR) XP_011531136.1:p.Ala329=
XM_005264309.3:c.987T>G (LHCGR) XP_005264366.1:p.Ala329=
XM_006712015.3:c.1014T>G (LHCGR) XP_006712078.1:p.Ala338=
XM_011532834.2:c.987T>G (LHCGR) XP_011531136.1:p.Ala329=
XM_017004089.1:c.1689T>G (LHCGR) XP_016859578.1:p.Ala563=
XM_017004090.1:c.1308T>G (LHCGR) XP_016859579.1:p.Ala436=
NM_000233.4:c.1944T>G (LHCGR) MANE Select NP_000224.2:p.Ala648=
NM_001198593.2:c.3441+16173A>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16173A>C