Canonical Allele Identifier: CA346749545

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1430608705
• gnomAD v2: 2-48915812-A-G
• gnomAD v4: 2-48688673-A-G
• MyVariant Identifiers: chr2:g.48915812A>G (hg19) ; chr2:g.48688673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688673A>G , CM000664.2:g.48688673A>G	GRCh38
NC_000002.11:g.48915812A>G , CM000664.1:g.48915812A>G	GRCh37
NC_000002.10:g.48769316A>G	NCBI36
NG_008193.1:g.72069T>C
NG_033050.1:g.163749A>G
NG_008193.2:g.72069T>C
NG_033050.2:g.163749A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1124T>C (LHCGR) MANE Select	ENSP00000294954.6:p.Met375Thr
ENST00000294954.11:c.1124T>C (LHCGR)	ENSP00000294954.6:p.Met375Thr
ENST00000401907.5:c.948-534T>C (LHCGR)	ENSP00000385406.1:n.948-534T>C
ENST00000402114.6:c.3441+16993A>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16993A>G
ENST00000403273.5:c.948-90T>C (LHCGR)	ENSP00000385847.1:n.948-90T>C
ENST00000405626.5:c.1043T>C (LHCGR)	ENSP00000386033.1:p.Met348Thr
ENST00000508440.1:c.276+16993A>G (GTF2A1L)	ENSP00000421474.1:n.276+16993A>G
ENST00000602369.3:c.*220+5551T>C	ENSP00000473498.1:n.*220+5551T>C
NM_000233.3:c.1124T>C (LHCGR)	NP_000224.2:p.Met375Thr
NM_001198593.1:c.3441+16993A>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16993A>G
XM_005264309.2:c.167T>C (LHCGR)	XP_005264366.1:p.Met56Thr
XM_006712015.2:c.194T>C (LHCGR)	XP_006712078.1:p.Met65Thr
XM_011532828.1:c.1049T>C (LHCGR)	XP_011531130.1:p.Met350Thr
XM_011532829.1:c.863T>C (LHCGR)	XP_011531131.1:p.Met288Thr
XM_011532830.1:c.782T>C (LHCGR)	XP_011531132.1:p.Met261Thr
XM_011532831.1:c.488T>C (LHCGR)	XP_011531133.1:p.Met163Thr
XM_011532832.1:c.194T>C (LHCGR)	XP_011531134.1:p.Met65Thr
XM_011532833.1:c.194T>C (LHCGR)	XP_011531135.1:p.Met65Thr
XM_011532834.1:c.167T>C (LHCGR)	XP_011531136.1:p.Met56Thr
XM_005264309.3:c.167T>C (LHCGR)	XP_005264366.1:p.Met56Thr
XM_006712015.3:c.194T>C (LHCGR)	XP_006712078.1:p.Met65Thr
XM_011532834.2:c.167T>C (LHCGR)	XP_011531136.1:p.Met56Thr
XM_017004089.1:c.869T>C (LHCGR)	XP_016859578.1:p.Met290Thr
XM_017004090.1:c.488T>C (LHCGR)	XP_016859579.1:p.Met163Thr
NM_000233.4:c.1124T>C (LHCGR) MANE Select	NP_000224.2:p.Met375Thr
NM_001198593.2:c.3441+16993A>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16993A>G