Canonical Allele Identifier: CA346743842

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• COSMIC: COSM3581976
• MyVariant Identifiers: chr2:g.48915030G>A (hg19) ; chr2:g.48687891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687891G>A , CM000664.2:g.48687891G>A	GRCh38
NC_000002.11:g.48915030G>A , CM000664.1:g.48915030G>A	GRCh37
NC_000002.10:g.48768534G>A	NCBI36
NG_008193.1:g.72851C>T
NG_033050.1:g.162967G>A
NG_008193.2:g.72851C>T
NG_033050.2:g.162967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1906C>T (LHCGR) MANE Select	ENSP00000294954.6:p.Leu636Phe
ENST00000294954.11:c.1906C>T (LHCGR)	ENSP00000294954.6:p.Leu636Phe
ENST00000401907.5:c.*218C>T (LHCGR)	ENSP00000385406.1:n.*218C>T
ENST00000402114.6:c.3441+16211G>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16211G>A
ENST00000403273.5:c.*650C>T (LHCGR)	ENSP00000385847.1:n.*650C>T
ENST00000405626.5:c.1825C>T (LHCGR)	ENSP00000386033.1:p.Leu609Phe
ENST00000508440.1:c.276+16211G>A (GTF2A1L)	ENSP00000421474.1:n.276+16211G>A
ENST00000602369.3:c.*220+6333C>T	ENSP00000473498.1:n.*220+6333C>T
NM_000233.3:c.1906C>T (LHCGR)	NP_000224.2:p.Leu636Phe
NM_001198593.1:c.3441+16211G>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16211G>A
XM_005264309.2:c.949C>T (LHCGR)	XP_005264366.1:p.Leu317Phe
XM_006712015.2:c.976C>T (LHCGR)	XP_006712078.1:p.Leu326Phe
XM_011532828.1:c.1831C>T (LHCGR)	XP_011531130.1:p.Leu611Phe
XM_011532829.1:c.1645C>T (LHCGR)	XP_011531131.1:p.Leu549Phe
XM_011532830.1:c.1564C>T (LHCGR)	XP_011531132.1:p.Leu522Phe
XM_011532831.1:c.1270C>T (LHCGR)	XP_011531133.1:p.Leu424Phe
XM_011532832.1:c.976C>T (LHCGR)	XP_011531134.1:p.Leu326Phe
XM_011532833.1:c.976C>T (LHCGR)	XP_011531135.1:p.Leu326Phe
XM_011532834.1:c.949C>T (LHCGR)	XP_011531136.1:p.Leu317Phe
XM_005264309.3:c.949C>T (LHCGR)	XP_005264366.1:p.Leu317Phe
XM_006712015.3:c.976C>T (LHCGR)	XP_006712078.1:p.Leu326Phe
XM_011532834.2:c.949C>T (LHCGR)	XP_011531136.1:p.Leu317Phe
XM_017004089.1:c.1651C>T (LHCGR)	XP_016859578.1:p.Leu551Phe
XM_017004090.1:c.1270C>T (LHCGR)	XP_016859579.1:p.Leu424Phe
NM_000233.4:c.1906C>T (LHCGR) MANE Select	NP_000224.2:p.Leu636Phe
NM_001198593.2:c.3441+16211G>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16211G>A