Canonical Allele Identifier: CA346746922

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1390057503
• gnomAD v4: 2-48688352-T-C
• MyVariant Identifiers: chr2:g.48915491T>C (hg19) ; chr2:g.48688352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688352T>C , CM000664.2:g.48688352T>C	GRCh38
NC_000002.11:g.48915491T>C , CM000664.1:g.48915491T>C	GRCh37
NC_000002.10:g.48768995T>C	NCBI36
NG_008193.1:g.72390A>G
NG_033050.1:g.163428T>C
NG_008193.2:g.72390A>G
NG_033050.2:g.163428T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1445A>G (LHCGR) MANE Select	ENSP00000294954.6:p.His482Arg
ENST00000294954.11:c.1445A>G (LHCGR)	ENSP00000294954.6:p.His482Arg
ENST00000401907.5:c.948-213A>G (LHCGR)	ENSP00000385406.1:n.948-213A>G
ENST00000402114.6:c.3441+16672T>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16672T>C
ENST00000403273.5:c.*189A>G (LHCGR)	ENSP00000385847.1:n.*189A>G
ENST00000405626.5:c.1364A>G (LHCGR)	ENSP00000386033.1:p.His455Arg
ENST00000508440.1:c.276+16672T>C (GTF2A1L)	ENSP00000421474.1:n.276+16672T>C
ENST00000602369.3:c.*220+5872A>G	ENSP00000473498.1:n.*220+5872A>G
NM_000233.3:c.1445A>G (LHCGR)	NP_000224.2:p.His482Arg
NM_001198593.1:c.3441+16672T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16672T>C
XM_005264309.2:c.488A>G (LHCGR)	XP_005264366.1:p.His163Arg
XM_006712015.2:c.515A>G (LHCGR)	XP_006712078.1:p.His172Arg
XM_011532828.1:c.1370A>G (LHCGR)	XP_011531130.1:p.His457Arg
XM_011532829.1:c.1184A>G (LHCGR)	XP_011531131.1:p.His395Arg
XM_011532830.1:c.1103A>G (LHCGR)	XP_011531132.1:p.His368Arg
XM_011532831.1:c.809A>G (LHCGR)	XP_011531133.1:p.His270Arg
XM_011532832.1:c.515A>G (LHCGR)	XP_011531134.1:p.His172Arg
XM_011532833.1:c.515A>G (LHCGR)	XP_011531135.1:p.His172Arg
XM_011532834.1:c.488A>G (LHCGR)	XP_011531136.1:p.His163Arg
XM_005264309.3:c.488A>G (LHCGR)	XP_005264366.1:p.His163Arg
XM_006712015.3:c.515A>G (LHCGR)	XP_006712078.1:p.His172Arg
XM_011532834.2:c.488A>G (LHCGR)	XP_011531136.1:p.His163Arg
XM_017004089.1:c.1190A>G (LHCGR)	XP_016859578.1:p.His397Arg
XM_017004090.1:c.809A>G (LHCGR)	XP_016859579.1:p.His270Arg
NM_000233.4:c.1445A>G (LHCGR) MANE Select	NP_000224.2:p.His482Arg
NM_001198593.2:c.3441+16672T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16672T>C