Canonical Allele Identifier: CA346745920

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48688194-T-G
• MyVariant Identifiers: chr2:g.48915333T>G (hg19) ; chr2:g.48688194T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688194T>G , CM000664.2:g.48688194T>G	GRCh38
NC_000002.11:g.48915333T>G , CM000664.1:g.48915333T>G	GRCh37
NC_000002.10:g.48768837T>G	NCBI36
NG_008193.1:g.72548A>C
NG_033050.1:g.163270T>G
NG_008193.2:g.72548A>C
NG_033050.2:g.163270T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1603A>C (LHCGR) MANE Select	ENSP00000294954.6:p.Asn535His
ENST00000294954.11:c.1603A>C (LHCGR)	ENSP00000294954.6:p.Asn535His
ENST00000401907.5:c.948-55A>C (LHCGR)	ENSP00000385406.1:n.948-55A>C
ENST00000402114.6:c.3441+16514T>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16514T>G
ENST00000403273.5:c.*347A>C (LHCGR)	ENSP00000385847.1:n.*347A>C
ENST00000405626.5:c.1522A>C (LHCGR)	ENSP00000386033.1:p.Asn508His
ENST00000508440.1:c.276+16514T>G (GTF2A1L)	ENSP00000421474.1:n.276+16514T>G
ENST00000602369.3:c.*220+6030A>C	ENSP00000473498.1:n.*220+6030A>C
NM_000233.3:c.1603A>C (LHCGR)	NP_000224.2:p.Asn535His
NM_001198593.1:c.3441+16514T>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16514T>G
XM_005264309.2:c.646A>C (LHCGR)	XP_005264366.1:p.Asn216His
XM_006712015.2:c.673A>C (LHCGR)	XP_006712078.1:p.Asn225His
XM_011532828.1:c.1528A>C (LHCGR)	XP_011531130.1:p.Asn510His
XM_011532829.1:c.1342A>C (LHCGR)	XP_011531131.1:p.Asn448His
XM_011532830.1:c.1261A>C (LHCGR)	XP_011531132.1:p.Asn421His
XM_011532831.1:c.967A>C (LHCGR)	XP_011531133.1:p.Asn323His
XM_011532832.1:c.673A>C (LHCGR)	XP_011531134.1:p.Asn225His
XM_011532833.1:c.673A>C (LHCGR)	XP_011531135.1:p.Asn225His
XM_011532834.1:c.646A>C (LHCGR)	XP_011531136.1:p.Asn216His
XM_005264309.3:c.646A>C (LHCGR)	XP_005264366.1:p.Asn216His
XM_006712015.3:c.673A>C (LHCGR)	XP_006712078.1:p.Asn225His
XM_011532834.2:c.646A>C (LHCGR)	XP_011531136.1:p.Asn216His
XM_017004089.1:c.1348A>C (LHCGR)	XP_016859578.1:p.Asn450His
XM_017004090.1:c.967A>C (LHCGR)	XP_016859579.1:p.Asn323His
NM_000233.4:c.1603A>C (LHCGR) MANE Select	NP_000224.2:p.Asn535His
NM_001198593.2:c.3441+16514T>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16514T>G