Canonical Allele Identifier: CA346747134

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1386304377
• gnomAD v2: 2-48915547-T-A
• gnomAD v4: 2-48688408-T-A
• MyVariant Identifiers: chr2:g.48915547T>A (hg19) ; chr2:g.48688408T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688408T>A , CM000664.2:g.48688408T>A	GRCh38
NC_000002.11:g.48915547T>A , CM000664.1:g.48915547T>A	GRCh37
NC_000002.10:g.48769051T>A	NCBI36
NG_008193.1:g.72334A>T
NG_033050.1:g.163484T>A
NG_008193.2:g.72334A>T
NG_033050.2:g.163484T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1389A>T (LHCGR) MANE Select	ENSP00000294954.6:p.Glu463Asp
ENST00000294954.11:c.1389A>T (LHCGR)	ENSP00000294954.6:p.Glu463Asp
ENST00000401907.5:c.948-269A>T (LHCGR)	ENSP00000385406.1:n.948-269A>T
ENST00000402114.6:c.3441+16728T>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16728T>A
ENST00000403273.5:c.*133A>T (LHCGR)	ENSP00000385847.1:n.*133A>T
ENST00000405626.5:c.1308A>T (LHCGR)	ENSP00000386033.1:p.Glu436Asp
ENST00000508440.1:c.276+16728T>A (GTF2A1L)	ENSP00000421474.1:n.276+16728T>A
ENST00000602369.3:c.*220+5816A>T	ENSP00000473498.1:n.*220+5816A>T
NM_000233.3:c.1389A>T (LHCGR)	NP_000224.2:p.Glu463Asp
NM_001198593.1:c.3441+16728T>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16728T>A
XM_005264309.2:c.432A>T (LHCGR)	XP_005264366.1:p.Glu144Asp
XM_006712015.2:c.459A>T (LHCGR)	XP_006712078.1:p.Glu153Asp
XM_011532828.1:c.1314A>T (LHCGR)	XP_011531130.1:p.Glu438Asp
XM_011532829.1:c.1128A>T (LHCGR)	XP_011531131.1:p.Glu376Asp
XM_011532830.1:c.1047A>T (LHCGR)	XP_011531132.1:p.Glu349Asp
XM_011532831.1:c.753A>T (LHCGR)	XP_011531133.1:p.Glu251Asp
XM_011532832.1:c.459A>T (LHCGR)	XP_011531134.1:p.Glu153Asp
XM_011532833.1:c.459A>T (LHCGR)	XP_011531135.1:p.Glu153Asp
XM_011532834.1:c.432A>T (LHCGR)	XP_011531136.1:p.Glu144Asp
XM_005264309.3:c.432A>T (LHCGR)	XP_005264366.1:p.Glu144Asp
XM_006712015.3:c.459A>T (LHCGR)	XP_006712078.1:p.Glu153Asp
XM_011532834.2:c.432A>T (LHCGR)	XP_011531136.1:p.Glu144Asp
XM_017004089.1:c.1134A>T (LHCGR)	XP_016859578.1:p.Glu378Asp
XM_017004090.1:c.753A>T (LHCGR)	XP_016859579.1:p.Glu251Asp
NM_000233.4:c.1389A>T (LHCGR) MANE Select	NP_000224.2:p.Glu463Asp
NM_001198593.2:c.3441+16728T>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16728T>A