Canonical Allele Identifier: CA46753083

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1041508701
• gnomAD v2: 2-48915666-C-T
• gnomAD v4: 2-48688527-C-T
• MyVariant Identifiers: chr2:g.48915666C>T (hg19) ; chr2:g.48688527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688527C>T , CM000664.2:g.48688527C>T	GRCh38
NC_000002.11:g.48915666C>T , CM000664.1:g.48915666C>T	GRCh37
NC_000002.10:g.48769170C>T	NCBI36
NG_008193.1:g.72215G>A
NG_033050.1:g.163603C>T
NG_008193.2:g.72215G>A
NG_033050.2:g.163603C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1270G>A (LHCGR) MANE Select	ENSP00000294954.6:p.Gly424Ser
ENST00000294954.11:c.1270G>A (LHCGR)	ENSP00000294954.6:p.Gly424Ser
ENST00000401907.5:c.948-388G>A (LHCGR)	ENSP00000385406.1:n.948-388G>A
ENST00000402114.6:c.3441+16847C>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16847C>T
ENST00000403273.5:c.*14G>A (LHCGR)	ENSP00000385847.1:n.*14G>A
ENST00000405626.5:c.1189G>A (LHCGR)	ENSP00000386033.1:p.Gly397Ser
ENST00000508440.1:c.276+16847C>T (GTF2A1L)	ENSP00000421474.1:n.276+16847C>T
ENST00000602369.3:c.*220+5697G>A	ENSP00000473498.1:n.*220+5697G>A
NM_000233.3:c.1270G>A (LHCGR)	NP_000224.2:p.Gly424Ser
NM_001198593.1:c.3441+16847C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16847C>T
XM_005264309.2:c.313G>A (LHCGR)	XP_005264366.1:p.Gly105Ser
XM_006712015.2:c.340G>A (LHCGR)	XP_006712078.1:p.Gly114Ser
XM_011532828.1:c.1195G>A (LHCGR)	XP_011531130.1:p.Gly399Ser
XM_011532829.1:c.1009G>A (LHCGR)	XP_011531131.1:p.Gly337Ser
XM_011532830.1:c.928G>A (LHCGR)	XP_011531132.1:p.Gly310Ser
XM_011532831.1:c.634G>A (LHCGR)	XP_011531133.1:p.Gly212Ser
XM_011532832.1:c.340G>A (LHCGR)	XP_011531134.1:p.Gly114Ser
XM_011532833.1:c.340G>A (LHCGR)	XP_011531135.1:p.Gly114Ser
XM_011532834.1:c.313G>A (LHCGR)	XP_011531136.1:p.Gly105Ser
XM_005264309.3:c.313G>A (LHCGR)	XP_005264366.1:p.Gly105Ser
XM_006712015.3:c.340G>A (LHCGR)	XP_006712078.1:p.Gly114Ser
XM_011532834.2:c.313G>A (LHCGR)	XP_011531136.1:p.Gly105Ser
XM_017004089.1:c.1015G>A (LHCGR)	XP_016859578.1:p.Gly339Ser
XM_017004090.1:c.634G>A (LHCGR)	XP_016859579.1:p.Gly212Ser
NM_000233.4:c.1270G>A (LHCGR) MANE Select	NP_000224.2:p.Gly424Ser
NM_001198593.2:c.3441+16847C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16847C>T