Canonical Allele Identifier: CA346745396

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs146785679
• gnomAD v3: 2-48688128-C-G
• gnomAD v4: 2-48688128-C-G
• MyVariant Identifiers: chr2:g.48915267C>G (hg19) ; chr2:g.48688128C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688128C>G , CM000664.2:g.48688128C>G	GRCh38
NC_000002.11:g.48915267C>G , CM000664.1:g.48915267C>G	GRCh37
NC_000002.10:g.48768771C>G	NCBI36
NG_008193.1:g.72614G>C
NG_033050.1:g.163204C>G
NG_008193.2:g.72614G>C
NG_033050.2:g.163204C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1669G>C (LHCGR) MANE Select	ENSP00000294954.6:p.Glu557Gln
ENST00000294954.11:c.1669G>C (LHCGR)	ENSP00000294954.6:p.Glu557Gln
ENST00000401907.5:c.959G>C (LHCGR)	ENSP00000385406.1:p.Arg320Thr
ENST00000402114.6:c.3441+16448C>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16448C>G
ENST00000403273.5:c.*413G>C (LHCGR)	ENSP00000385847.1:n.*413G>C
ENST00000405626.5:c.1588G>C (LHCGR)	ENSP00000386033.1:p.Glu530Gln
ENST00000508440.1:c.276+16448C>G (GTF2A1L)	ENSP00000421474.1:n.276+16448C>G
ENST00000602369.3:c.*220+6096G>C	ENSP00000473498.1:n.*220+6096G>C
NM_000233.3:c.1669G>C (LHCGR)	NP_000224.2:p.Glu557Gln
NM_001198593.1:c.3441+16448C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16448C>G
XM_005264309.2:c.712G>C (LHCGR)	XP_005264366.1:p.Glu238Gln
XM_006712015.2:c.739G>C (LHCGR)	XP_006712078.1:p.Glu247Gln
XM_011532828.1:c.1594G>C (LHCGR)	XP_011531130.1:p.Glu532Gln
XM_011532829.1:c.1408G>C (LHCGR)	XP_011531131.1:p.Glu470Gln
XM_011532830.1:c.1327G>C (LHCGR)	XP_011531132.1:p.Glu443Gln
XM_011532831.1:c.1033G>C (LHCGR)	XP_011531133.1:p.Glu345Gln
XM_011532832.1:c.739G>C (LHCGR)	XP_011531134.1:p.Glu247Gln
XM_011532833.1:c.739G>C (LHCGR)	XP_011531135.1:p.Glu247Gln
XM_011532834.1:c.712G>C (LHCGR)	XP_011531136.1:p.Glu238Gln
XM_005264309.3:c.712G>C (LHCGR)	XP_005264366.1:p.Glu238Gln
XM_006712015.3:c.739G>C (LHCGR)	XP_006712078.1:p.Glu247Gln
XM_011532834.2:c.712G>C (LHCGR)	XP_011531136.1:p.Glu238Gln
XM_017004089.1:c.1414G>C (LHCGR)	XP_016859578.1:p.Glu472Gln
XM_017004090.1:c.1033G>C (LHCGR)	XP_016859579.1:p.Glu345Gln
NM_000233.4:c.1669G>C (LHCGR) MANE Select	NP_000224.2:p.Glu557Gln
NM_001198593.2:c.3441+16448C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16448C>G