Canonical Allele Identifier: CA346746797

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1680011902
• gnomAD v3: 2-48688323-G-T
• gnomAD v4: 2-48688323-G-T
• MyVariant Identifiers: chr2:g.48915462G>T (hg19) ; chr2:g.48688323G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688323G>T , CM000664.2:g.48688323G>T	GRCh38
NC_000002.11:g.48915462G>T , CM000664.1:g.48915462G>T	GRCh37
NC_000002.10:g.48768966G>T	NCBI36
NG_008193.1:g.72419C>A
NG_033050.1:g.163399G>T
NG_008193.2:g.72419C>A
NG_033050.2:g.163399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1474C>A (LHCGR) MANE Select	ENSP00000294954.6:p.Leu492Ile
ENST00000294954.11:c.1474C>A (LHCGR)	ENSP00000294954.6:p.Leu492Ile
ENST00000401907.5:c.948-184C>A (LHCGR)	ENSP00000385406.1:n.948-184C>A
ENST00000402114.6:c.3441+16643G>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16643G>T
ENST00000403273.5:c.*218C>A (LHCGR)	ENSP00000385847.1:n.*218C>A
ENST00000405626.5:c.1393C>A (LHCGR)	ENSP00000386033.1:p.Leu465Ile
ENST00000508440.1:c.276+16643G>T (GTF2A1L)	ENSP00000421474.1:n.276+16643G>T
ENST00000602369.3:c.*220+5901C>A	ENSP00000473498.1:n.*220+5901C>A
NM_000233.3:c.1474C>A (LHCGR)	NP_000224.2:p.Leu492Ile
NM_001198593.1:c.3441+16643G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16643G>T
XM_005264309.2:c.517C>A (LHCGR)	XP_005264366.1:p.Leu173Ile
XM_006712015.2:c.544C>A (LHCGR)	XP_006712078.1:p.Leu182Ile
XM_011532828.1:c.1399C>A (LHCGR)	XP_011531130.1:p.Leu467Ile
XM_011532829.1:c.1213C>A (LHCGR)	XP_011531131.1:p.Leu405Ile
XM_011532830.1:c.1132C>A (LHCGR)	XP_011531132.1:p.Leu378Ile
XM_011532831.1:c.838C>A (LHCGR)	XP_011531133.1:p.Leu280Ile
XM_011532832.1:c.544C>A (LHCGR)	XP_011531134.1:p.Leu182Ile
XM_011532833.1:c.544C>A (LHCGR)	XP_011531135.1:p.Leu182Ile
XM_011532834.1:c.517C>A (LHCGR)	XP_011531136.1:p.Leu173Ile
XM_005264309.3:c.517C>A (LHCGR)	XP_005264366.1:p.Leu173Ile
XM_006712015.3:c.544C>A (LHCGR)	XP_006712078.1:p.Leu182Ile
XM_011532834.2:c.517C>A (LHCGR)	XP_011531136.1:p.Leu173Ile
XM_017004089.1:c.1219C>A (LHCGR)	XP_016859578.1:p.Leu407Ile
XM_017004090.1:c.838C>A (LHCGR)	XP_016859579.1:p.Leu280Ile
NM_000233.4:c.1474C>A (LHCGR) MANE Select	NP_000224.2:p.Leu492Ile
NM_001198593.2:c.3441+16643G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16643G>T