Canonical Allele Identifier: CA1652939

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs752044554
• ExAC: 2:48914883 A / G
• gnomAD v2: 2-48914883-A-G
• gnomAD v4: 2-48687744-A-G
• MyVariant Identifiers: chr2:g.48914883A>G (hg19) ; chr2:g.48687744A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687744A>G , CM000664.2:g.48687744A>G	GRCh38
NC_000002.11:g.48914883A>G , CM000664.1:g.48914883A>G	GRCh37
NC_000002.10:g.48768387A>G	NCBI36
NG_008193.1:g.72998T>C
NG_033050.1:g.162820A>G
NG_008193.2:g.72998T>C
NG_033050.2:g.162820A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.2053T>C (LHCGR) MANE Select	ENSP00000294954.6:p.Cys685Arg
ENST00000294954.11:c.2053T>C (LHCGR)	ENSP00000294954.6:p.Cys685Arg
ENST00000401907.5:c.*365T>C (LHCGR)	ENSP00000385406.1:n.*365T>C
ENST00000402114.6:c.3441+16064A>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16064A>G
ENST00000403273.5:c.*797T>C (LHCGR)	ENSP00000385847.1:n.*797T>C
ENST00000405626.5:c.1972T>C (LHCGR)	ENSP00000386033.1:p.Cys658Arg
ENST00000508440.1:c.276+16064A>G (GTF2A1L)	ENSP00000421474.1:n.276+16064A>G
ENST00000602369.3:c.*220+6480T>C	ENSP00000473498.1:n.*220+6480T>C
NM_000233.3:c.2053T>C (LHCGR)	NP_000224.2:p.Cys685Arg
NM_001198593.1:c.3441+16064A>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16064A>G
XM_005264309.2:c.1096T>C (LHCGR)	XP_005264366.1:p.Cys366Arg
XM_006712015.2:c.1123T>C (LHCGR)	XP_006712078.1:p.Cys375Arg
XM_011532828.1:c.1978T>C (LHCGR)	XP_011531130.1:p.Cys660Arg
XM_011532829.1:c.1792T>C (LHCGR)	XP_011531131.1:p.Cys598Arg
XM_011532830.1:c.1711T>C (LHCGR)	XP_011531132.1:p.Cys571Arg
XM_011532831.1:c.1417T>C (LHCGR)	XP_011531133.1:p.Cys473Arg
XM_011532832.1:c.1123T>C (LHCGR)	XP_011531134.1:p.Cys375Arg
XM_011532833.1:c.1123T>C (LHCGR)	XP_011531135.1:p.Cys375Arg
XM_011532834.1:c.1096T>C (LHCGR)	XP_011531136.1:p.Cys366Arg
XM_005264309.3:c.1096T>C (LHCGR)	XP_005264366.1:p.Cys366Arg
XM_006712015.3:c.1123T>C (LHCGR)	XP_006712078.1:p.Cys375Arg
XM_011532834.2:c.1096T>C (LHCGR)	XP_011531136.1:p.Cys366Arg
XM_017004089.1:c.1798T>C (LHCGR)	XP_016859578.1:p.Cys600Arg
XM_017004090.1:c.1417T>C (LHCGR)	XP_016859579.1:p.Cys473Arg
NM_000233.4:c.2053T>C (LHCGR) MANE Select	NP_000224.2:p.Cys685Arg
NM_001198593.2:c.3441+16064A>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16064A>G