Canonical Allele Identifier: CA426124487
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.48914875A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687736A>G , CM000664.2:g.48687736A>G GRCh38
NC_000002.11:g.48914875A>G , CM000664.1:g.48914875A>G GRCh37
NC_000002.10:g.48768379A>G NCBI36
NG_008193.1:g.73006T>C
NG_033050.1:g.162812A>G
NG_008193.2:g.73006T>C
NG_033050.2:g.162812A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.2061T>C (LHCGR) MANE Select ENSP00000294954.6:p.Gly687=
ENST00000294954.11:c.2061T>C (LHCGR) ENSP00000294954.6:p.Gly687=
ENST00000401907.5:c.*373T>C (LHCGR) ENSP00000385406.1:n.*373T>C
ENST00000402114.6:c.3441+16056A>G (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16056A>G
ENST00000403273.5:c.*805T>C (LHCGR) ENSP00000385847.1:n.*805T>C
ENST00000405626.5:c.1980T>C (LHCGR) ENSP00000386033.1:p.Gly660=
ENST00000508440.1:c.276+16056A>G (GTF2A1L) ENSP00000421474.1:n.276+16056A>G
ENST00000602369.3:c.*220+6488T>C ENSP00000473498.1:n.*220+6488T>C
NM_000233.3:c.2061T>C (LHCGR) NP_000224.2:p.Gly687=
NM_001198593.1:c.3441+16056A>G (STON1-GTF2A1L) NP_001185522.1:n.3441+16056A>G
XM_005264309.2:c.1104T>C (LHCGR) XP_005264366.1:p.Gly368=
XM_006712015.2:c.1131T>C (LHCGR) XP_006712078.1:p.Gly377=
XM_011532828.1:c.1986T>C (LHCGR) XP_011531130.1:p.Gly662=
XM_011532829.1:c.1800T>C (LHCGR) XP_011531131.1:p.Gly600=
XM_011532830.1:c.1719T>C (LHCGR) XP_011531132.1:p.Gly573=
XM_011532831.1:c.1425T>C (LHCGR) XP_011531133.1:p.Gly475=
XM_011532832.1:c.1131T>C (LHCGR) XP_011531134.1:p.Gly377=
XM_011532833.1:c.1131T>C (LHCGR) XP_011531135.1:p.Gly377=
XM_011532834.1:c.1104T>C (LHCGR) XP_011531136.1:p.Gly368=
XM_005264309.3:c.1104T>C (LHCGR) XP_005264366.1:p.Gly368=
XM_006712015.3:c.1131T>C (LHCGR) XP_006712078.1:p.Gly377=
XM_011532834.2:c.1104T>C (LHCGR) XP_011531136.1:p.Gly368=
XM_017004089.1:c.1806T>C (LHCGR) XP_016859578.1:p.Gly602=
XM_017004090.1:c.1425T>C (LHCGR) XP_016859579.1:p.Gly475=
NM_000233.4:c.2061T>C (LHCGR) MANE Select NP_000224.2:p.Gly687=
NM_001198593.2:c.3441+16056A>G (STON1-GTF2A1L) NP_001185522.1:n.3441+16056A>G