Canonical Allele Identifier: CA426125074
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.48914944T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687805T>C , CM000664.2:g.48687805T>C GRCh38
NC_000002.11:g.48914944T>C , CM000664.1:g.48914944T>C GRCh37
NC_000002.10:g.48768448T>C NCBI36
NG_008193.1:g.72937A>G
NG_033050.1:g.162881T>C
NG_008193.2:g.72937A>G
NG_033050.2:g.162881T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1992A>G (LHCGR) MANE Select ENSP00000294954.6:p.Lys664=
ENST00000294954.11:c.1992A>G (LHCGR) ENSP00000294954.6:p.Lys664=
ENST00000401907.5:c.*304A>G (LHCGR) ENSP00000385406.1:n.*304A>G
ENST00000402114.6:c.3441+16125T>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16125T>C
ENST00000403273.5:c.*736A>G (LHCGR) ENSP00000385847.1:n.*736A>G
ENST00000405626.5:c.1911A>G (LHCGR) ENSP00000386033.1:p.Lys637=
ENST00000508440.1:c.276+16125T>C (GTF2A1L) ENSP00000421474.1:n.276+16125T>C
ENST00000602369.3:c.*220+6419A>G ENSP00000473498.1:n.*220+6419A>G
NM_000233.3:c.1992A>G (LHCGR) NP_000224.2:p.Lys664=
NM_001198593.1:c.3441+16125T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16125T>C
XM_005264309.2:c.1035A>G (LHCGR) XP_005264366.1:p.Lys345=
XM_006712015.2:c.1062A>G (LHCGR) XP_006712078.1:p.Lys354=
XM_011532828.1:c.1917A>G (LHCGR) XP_011531130.1:p.Lys639=
XM_011532829.1:c.1731A>G (LHCGR) XP_011531131.1:p.Lys577=
XM_011532830.1:c.1650A>G (LHCGR) XP_011531132.1:p.Lys550=
XM_011532831.1:c.1356A>G (LHCGR) XP_011531133.1:p.Lys452=
XM_011532832.1:c.1062A>G (LHCGR) XP_011531134.1:p.Lys354=
XM_011532833.1:c.1062A>G (LHCGR) XP_011531135.1:p.Lys354=
XM_011532834.1:c.1035A>G (LHCGR) XP_011531136.1:p.Lys345=
XM_005264309.3:c.1035A>G (LHCGR) XP_005264366.1:p.Lys345=
XM_006712015.3:c.1062A>G (LHCGR) XP_006712078.1:p.Lys354=
XM_011532834.2:c.1035A>G (LHCGR) XP_011531136.1:p.Lys345=
XM_017004089.1:c.1737A>G (LHCGR) XP_016859578.1:p.Lys579=
XM_017004090.1:c.1356A>G (LHCGR) XP_016859579.1:p.Lys452=
NM_000233.4:c.1992A>G (LHCGR) MANE Select NP_000224.2:p.Lys664=
NM_001198593.2:c.3441+16125T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16125T>C