Canonical Allele Identifier: CA346748475

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48688551-C-G
• MyVariant Identifiers: chr2:g.48915690C>G (hg19) ; chr2:g.48688551C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688551C>G , CM000664.2:g.48688551C>G	GRCh38
NC_000002.11:g.48915690C>G , CM000664.1:g.48915690C>G	GRCh37
NC_000002.10:g.48769194C>G	NCBI36
NG_008193.1:g.72191G>C
NG_033050.1:g.163627C>G
NG_008193.2:g.72191G>C
NG_033050.2:g.163627C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1246G>C (LHCGR) MANE Select	ENSP00000294954.6:p.Ala416Pro
ENST00000294954.11:c.1246G>C (LHCGR)	ENSP00000294954.6:p.Ala416Pro
ENST00000401907.5:c.948-412G>C (LHCGR)	ENSP00000385406.1:n.948-412G>C
ENST00000402114.6:c.3441+16871C>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16871C>G
ENST00000403273.5:c.980G>C (LHCGR)	ENSP00000385847.1:p.Ser327Thr
ENST00000405626.5:c.1165G>C (LHCGR)	ENSP00000386033.1:p.Ala389Pro
ENST00000508440.1:c.276+16871C>G (GTF2A1L)	ENSP00000421474.1:n.276+16871C>G
ENST00000602369.3:c.*220+5673G>C	ENSP00000473498.1:n.*220+5673G>C
NM_000233.3:c.1246G>C (LHCGR)	NP_000224.2:p.Ala416Pro
NM_001198593.1:c.3441+16871C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16871C>G
XM_005264309.2:c.289G>C (LHCGR)	XP_005264366.1:p.Ala97Pro
XM_006712015.2:c.316G>C (LHCGR)	XP_006712078.1:p.Ala106Pro
XM_011532828.1:c.1171G>C (LHCGR)	XP_011531130.1:p.Ala391Pro
XM_011532829.1:c.985G>C (LHCGR)	XP_011531131.1:p.Ala329Pro
XM_011532830.1:c.904G>C (LHCGR)	XP_011531132.1:p.Ala302Pro
XM_011532831.1:c.610G>C (LHCGR)	XP_011531133.1:p.Ala204Pro
XM_011532832.1:c.316G>C (LHCGR)	XP_011531134.1:p.Ala106Pro
XM_011532833.1:c.316G>C (LHCGR)	XP_011531135.1:p.Ala106Pro
XM_011532834.1:c.289G>C (LHCGR)	XP_011531136.1:p.Ala97Pro
XM_005264309.3:c.289G>C (LHCGR)	XP_005264366.1:p.Ala97Pro
XM_006712015.3:c.316G>C (LHCGR)	XP_006712078.1:p.Ala106Pro
XM_011532834.2:c.289G>C (LHCGR)	XP_011531136.1:p.Ala97Pro
XM_017004089.1:c.991G>C (LHCGR)	XP_016859578.1:p.Ala331Pro
XM_017004090.1:c.610G>C (LHCGR)	XP_016859579.1:p.Ala204Pro
NM_000233.4:c.1246G>C (LHCGR) MANE Select	NP_000224.2:p.Ala416Pro
NM_001198593.2:c.3441+16871C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16871C>G