Canonical Allele Identifier: CA346751574

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48694249-C-A
• MyVariant Identifiers: chr2:g.48921388C>A (hg19) ; chr2:g.48694249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694249C>A , CM000664.2:g.48694249C>A	GRCh38
NC_000002.11:g.48921388C>A , CM000664.1:g.48921388C>A	GRCh37
NC_000002.10:g.48774892C>A	NCBI36
NG_008193.1:g.66493G>T
NG_033050.1:g.169325C>A
NG_008193.2:g.66493G>T
NG_033050.2:g.169325C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.922G>T (LHCGR) MANE Select	ENSP00000294954.6:p.Val308Leu
ENST00000294954.11:c.922G>T (LHCGR)	ENSP00000294954.6:p.Val308Leu
ENST00000401907.5:c.922G>T (LHCGR)	ENSP00000385406.1:p.Val308Leu
ENST00000402114.6:c.3441+22569C>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22569C>A
ENST00000403273.5:c.922G>T (LHCGR)	ENSP00000385847.1:p.Val308Leu
ENST00000405626.5:c.866+4366G>T (LHCGR)	ENSP00000386033.1:n.866+4366G>T
ENST00000508440.1:c.276+22569C>A (GTF2A1L)	ENSP00000421474.1:n.276+22569C>A
ENST00000602369.3:c.*195G>T	ENSP00000473498.1:n.*195G>T
NM_000233.3:c.922G>T (LHCGR)	NP_000224.2:p.Val308Leu
NM_001198593.1:c.3441+22569C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+22569C>A
XM_005264309.2:c.-19G>T (LHCGR)	XP_005264366.1:n.-19G>T
XM_011532828.1:c.847G>T (LHCGR)	XP_011531130.1:p.Val283Leu
XM_011532829.1:c.661G>T (LHCGR)	XP_011531131.1:p.Val221Leu
XM_011532830.1:c.606-5400G>T (LHCGR)	XP_011531132.1:n.606-5400G>T
XM_011532831.1:c.286G>T (LHCGR)	XP_011531133.1:p.Val96Leu
XM_005264309.3:c.-19G>T (LHCGR)	XP_005264366.1:n.-19G>T
XM_017004089.1:c.667G>T (LHCGR)	XP_016859578.1:p.Val223Leu
XM_017004090.1:c.286G>T (LHCGR)	XP_016859579.1:p.Val96Leu
NM_000233.4:c.922G>T (LHCGR) MANE Select	NP_000224.2:p.Val308Leu
NM_001198593.2:c.3441+22569C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+22569C>A