Canonical Allele Identifier: CA47295578

Gene: LHCGR STON1-GTF2A1L

Linked Data

• ClinVar Variation Id: 2633361
• ClinVar RCV Id: RCV003391556
• dbSNP Id: rs917607255
• gnomAD v2: 2-48982782-A-G
• gnomAD v4: 2-48755643-A-G
• MyVariant Identifiers: chr2:g.48982782A>G (hg19) ; chr2:g.48755643A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755643A>G , CM000664.2:g.48755643A>G	GRCh38
NC_000002.11:g.48982782A>G , CM000664.1:g.48982782A>G	GRCh37
NC_000002.10:g.48836286A>G	NCBI36
NG_008193.1:g.5099T>C
NG_033050.1:g.230719A>G
NG_008193.2:g.5099T>C
NG_033050.2:g.230719A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.29T>C (LHCGR) MANE Select	ENSP00000294954.6:p.Leu10Pro
ENST00000294954.11:c.29T>C (LHCGR)	ENSP00000294954.6:p.Leu10Pro
ENST00000401907.5:c.29T>C (LHCGR)	ENSP00000385406.1:p.Leu10Pro
ENST00000402114.6:c.3442-20637A>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20637A>G
ENST00000403273.5:c.29T>C (LHCGR)	ENSP00000385847.1:p.Leu10Pro
ENST00000405626.5:c.29T>C (LHCGR)	ENSP00000386033.1:p.Leu10Pro
ENST00000602369.3:c.29T>C	ENSP00000473498.1:p.Leu10Pro
NM_000233.3:c.29T>C (LHCGR)	NP_000224.2:p.Leu10Pro
NM_001198593.1:c.3442-20637A>G (STON1-GTF2A1L)	NP_001185522.1:n.3442-20637A>G
XM_011532828.1:c.29T>C (LHCGR)	XP_011531130.1:p.Leu10Pro
XM_011532829.1:c.29T>C (LHCGR)	XP_011531131.1:p.Leu10Pro
XM_011532830.1:c.29T>C (LHCGR)	XP_011531132.1:p.Leu10Pro
NM_000233.4:c.29T>C (LHCGR) MANE Select	NP_000224.2:p.Leu10Pro
NM_001198593.2:c.3442-20637A>G (STON1-GTF2A1L)	NP_001185522.1:n.3442-20637A>G