Canonical Allele Identifier: CA346815476

Gene: LHCGR STON1-GTF2A1L

Linked Data

• dbSNP Id: rs1472140371
• gnomAD v2: 2-48982694-G-T
• gnomAD v4: 2-48755555-G-T
• MyVariant Identifiers: chr2:g.48982694G>T (hg19) ; chr2:g.48755555G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755555G>T , CM000664.2:g.48755555G>T	GRCh38
NC_000002.11:g.48982694G>T , CM000664.1:g.48982694G>T	GRCh37
NC_000002.10:g.48836198G>T	NCBI36
NG_008193.1:g.5187C>A
NG_033050.1:g.230631G>T
NG_008193.2:g.5187C>A
NG_033050.2:g.230631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.117C>A (LHCGR) MANE Select	ENSP00000294954.6:p.Asp39Glu
ENST00000294954.11:c.117C>A (LHCGR)	ENSP00000294954.6:p.Asp39Glu
ENST00000401907.5:c.117C>A (LHCGR)	ENSP00000385406.1:p.Asp39Glu
ENST00000402114.6:c.3442-20725G>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20725G>T
ENST00000403273.5:c.117C>A (LHCGR)	ENSP00000385847.1:p.Asp39Glu
ENST00000405626.5:c.117C>A (LHCGR)	ENSP00000386033.1:p.Asp39Glu
ENST00000428232.2:c.15C>A (LHCGR)	ENSP00000403748.1:p.Asp5Glu
ENST00000602369.3:c.117C>A	ENSP00000473498.1:p.Asp39Glu
NM_000233.3:c.117C>A (LHCGR)	NP_000224.2:p.Asp39Glu
NM_001198593.1:c.3442-20725G>T (STON1-GTF2A1L)	NP_001185522.1:n.3442-20725G>T
XM_011532828.1:c.117C>A (LHCGR)	XP_011531130.1:p.Asp39Glu
XM_011532829.1:c.117C>A (LHCGR)	XP_011531131.1:p.Asp39Glu
XM_011532830.1:c.117C>A (LHCGR)	XP_011531132.1:p.Asp39Glu
NM_000233.4:c.117C>A (LHCGR) MANE Select	NP_000224.2:p.Asp39Glu
NM_001198593.2:c.3442-20725G>T (STON1-GTF2A1L)	NP_001185522.1:n.3442-20725G>T