Canonical Allele Identifier: CA426095223

Gene: LHCGR STON1-GTF2A1L

Linked Data

• dbSNP Id: rs1180849963
• gnomAD v2: 2-48982761-A-AGCT
• gnomAD v3: 2-48755622-A-AGCT
• gnomAD v4: 2-48755622-A-AGCT
• MyVariant Identifiers: chr2:g.48982761_48982762insGCT (hg19) ; chr2:g.48755622_48755623insGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755624_48755625insTGC , CM000664.2:g.48755624_48755625insTGC	GRCh38
NC_000002.11:g.48982763_48982764insTGC , CM000664.1:g.48982763_48982764insTGC	GRCh37
NC_000002.10:g.48836267_48836268insTGC	NCBI36
NG_008193.1:g.5119_5120insAGC
NG_033050.1:g.230700_230701insTGC
NG_008193.2:g.5119_5120insAGC
NG_033050.2:g.230700_230701insTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.49_50insAGC (LHCGR) MANE Select	ENSP00000294954.6:p.Leu16_Leu17insGln
ENST00000294954.11:c.49_50insAGC (LHCGR)	ENSP00000294954.6:p.Leu16_Leu17insGln
ENST00000401907.5:c.49_50insAGC (LHCGR)	ENSP00000385406.1:p.Leu16_Leu17insGln
ENST00000402114.6:c.3442-20656_3442-20655insTGC (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20656_3442-20655insTGC
ENST00000403273.5:c.49_50insAGC (LHCGR)	ENSP00000385847.1:p.Leu16_Leu17insGln
ENST00000405626.5:c.49_50insAGC (LHCGR)	ENSP00000386033.1:p.Leu16_Leu17insGln
ENST00000602369.3:c.49_50insAGC	ENSP00000473498.1:p.Leu16_Leu17insGln
NM_000233.3:c.49_50insAGC (LHCGR)	NP_000224.2:p.Leu16_Leu17insGln
NM_001198593.1:c.3442-20656_3442-20655insTGC (STON1-GTF2A1L)	NP_001185522.1:n.3442-20656_3442-20655insTGC
XM_011532828.1:c.49_50insAGC (LHCGR)	XP_011531130.1:p.Leu16_Leu17insGln
XM_011532829.1:c.49_50insAGC (LHCGR)	XP_011531131.1:p.Leu16_Leu17insGln
XM_011532830.1:c.49_50insAGC (LHCGR)	XP_011531132.1:p.Leu16_Leu17insGln
NM_000233.4:c.49_50insAGC (LHCGR) MANE Select	NP_000224.2:p.Leu16_Leu17insGln
NM_001198593.2:c.3442-20656_3442-20655insTGC (STON1-GTF2A1L)	NP_001185522.1:n.3442-20656_3442-20655insTGC