Canonical Allele Identifier: CA532559305

Gene: LHCGR STON1-GTF2A1L

Linked Data

• dbSNP Id: rs1333982106
• gnomAD v2: 2-48982834-G-A
• gnomAD v4: 2-48755695-G-A
• MyVariant Identifiers: chr2:g.48982834G>A (hg19) ; chr2:g.48755695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755695G>A , CM000664.2:g.48755695G>A	GRCh38
NC_000002.11:g.48982834G>A , CM000664.1:g.48982834G>A	GRCh37
NC_000002.10:g.48836338G>A	NCBI36
NG_008193.1:g.5047C>T
NG_033050.1:g.230771G>A
NG_008193.2:g.5047C>T
NG_033050.2:g.230771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.-24C>T (LHCGR) MANE Select	ENSP00000294954.6:n.-24C>T
ENST00000401907.5:c.-24C>T (LHCGR)	ENSP00000385406.1:n.-24C>T
ENST00000402114.6:c.3442-20585G>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20585G>A
ENST00000403273.5:c.-24C>T (LHCGR)	ENSP00000385847.1:n.-24C>T
ENST00000602369.3:c.-24C>T	ENSP00000473498.1:n.-24C>T
NM_000233.3:c.-24C>T (LHCGR)	NP_000224.2:n.-24C>T
NM_001198593.1:c.3442-20585G>A (STON1-GTF2A1L)	NP_001185522.1:n.3442-20585G>A
XM_011532828.1:c.-24C>T (LHCGR)	XP_011531130.1:n.-24C>T
XM_011532829.1:c.-24C>T (LHCGR)	XP_011531131.1:n.-24C>T
XM_011532830.1:c.-24C>T (LHCGR)	XP_011531132.1:n.-24C>T
NM_000233.4:c.-24C>T (LHCGR) MANE Select	NP_000224.2:n.-24C>T
NM_001198593.2:c.3442-20585G>A (STON1-GTF2A1L)	NP_001185522.1:n.3442-20585G>A