Canonical Allele Identifier: CA346815513

Gene: LHCGR STON1-GTF2A1L

Linked Data

• dbSNP Id: rs1295870346
• gnomAD v2: 2-48982710-C-T
• gnomAD v4: 2-48755571-C-T
• MyVariant Identifiers: chr2:g.48982710C>T (hg19) ; chr2:g.48755571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755571C>T , CM000664.2:g.48755571C>T	GRCh38
NC_000002.11:g.48982710C>T , CM000664.1:g.48982710C>T	GRCh37
NC_000002.10:g.48836214C>T	NCBI36
NG_008193.1:g.5171G>A
NG_033050.1:g.230647C>T
NG_008193.2:g.5171G>A
NG_033050.2:g.230647C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.101G>A (LHCGR) MANE Select	ENSP00000294954.6:p.Cys34Tyr
ENST00000294954.11:c.101G>A (LHCGR)	ENSP00000294954.6:p.Cys34Tyr
ENST00000401907.5:c.101G>A (LHCGR)	ENSP00000385406.1:p.Cys34Tyr
ENST00000402114.6:c.3442-20709C>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20709C>T
ENST00000403273.5:c.101G>A (LHCGR)	ENSP00000385847.1:p.Cys34Tyr
ENST00000405626.5:c.101G>A (LHCGR)	ENSP00000386033.1:p.Cys34Tyr
ENST00000602369.3:c.101G>A	ENSP00000473498.1:p.Cys34Tyr
NM_000233.3:c.101G>A (LHCGR)	NP_000224.2:p.Cys34Tyr
NM_001198593.1:c.3442-20709C>T (STON1-GTF2A1L)	NP_001185522.1:n.3442-20709C>T
XM_011532828.1:c.101G>A (LHCGR)	XP_011531130.1:p.Cys34Tyr
XM_011532829.1:c.101G>A (LHCGR)	XP_011531131.1:p.Cys34Tyr
XM_011532830.1:c.101G>A (LHCGR)	XP_011531132.1:p.Cys34Tyr
NM_000233.4:c.101G>A (LHCGR) MANE Select	NP_000224.2:p.Cys34Tyr
NM_001198593.2:c.3442-20709C>T (STON1-GTF2A1L)	NP_001185522.1:n.3442-20709C>T