Canonical Allele Identifier: CA1653059

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs775345112
• ExAC: 2:48915697 C / A
• gnomAD v2: 2-48915697-C-A
• gnomAD v4: 2-48688558-C-A
• COSMIC: COSM3743818
• MyVariant Identifiers: chr2:g.48915697C>A (hg19) ; chr2:g.48688558C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688558C>A , CM000664.2:g.48688558C>A	GRCh38
NC_000002.11:g.48915697C>A , CM000664.1:g.48915697C>A	GRCh37
NC_000002.10:g.48769201C>A	NCBI36
NG_008193.1:g.72184G>T
NG_033050.1:g.163634C>A
NG_008193.2:g.72184G>T
NG_033050.2:g.163634C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1239G>T (LHCGR) MANE Select	ENSP00000294954.6:p.Leu413=
ENST00000294954.11:c.1239G>T (LHCGR)	ENSP00000294954.6:p.Leu413=
ENST00000401907.5:c.948-419G>T (LHCGR)	ENSP00000385406.1:n.948-419G>T
ENST00000402114.6:c.3441+16878C>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16878C>A
ENST00000403273.5:c.973G>T (LHCGR)	ENSP00000385847.1:p.Ala325Ser
ENST00000405626.5:c.1158G>T (LHCGR)	ENSP00000386033.1:p.Leu386=
ENST00000508440.1:c.276+16878C>A (GTF2A1L)	ENSP00000421474.1:n.276+16878C>A
ENST00000602369.3:c.*220+5666G>T	ENSP00000473498.1:n.*220+5666G>T
NM_000233.3:c.1239G>T (LHCGR)	NP_000224.2:p.Leu413=
NM_001198593.1:c.3441+16878C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16878C>A
XM_005264309.2:c.282G>T (LHCGR)	XP_005264366.1:p.Leu94=
XM_006712015.2:c.309G>T (LHCGR)	XP_006712078.1:p.Leu103=
XM_011532828.1:c.1164G>T (LHCGR)	XP_011531130.1:p.Leu388=
XM_011532829.1:c.978G>T (LHCGR)	XP_011531131.1:p.Leu326=
XM_011532830.1:c.897G>T (LHCGR)	XP_011531132.1:p.Leu299=
XM_011532831.1:c.603G>T (LHCGR)	XP_011531133.1:p.Leu201=
XM_011532832.1:c.309G>T (LHCGR)	XP_011531134.1:p.Leu103=
XM_011532833.1:c.309G>T (LHCGR)	XP_011531135.1:p.Leu103=
XM_011532834.1:c.282G>T (LHCGR)	XP_011531136.1:p.Leu94=
XM_005264309.3:c.282G>T (LHCGR)	XP_005264366.1:p.Leu94=
XM_006712015.3:c.309G>T (LHCGR)	XP_006712078.1:p.Leu103=
XM_011532834.2:c.282G>T (LHCGR)	XP_011531136.1:p.Leu94=
XM_017004089.1:c.984G>T (LHCGR)	XP_016859578.1:p.Leu328=
XM_017004090.1:c.603G>T (LHCGR)	XP_016859579.1:p.Leu201=
NM_000233.4:c.1239G>T (LHCGR) MANE Select	NP_000224.2:p.Leu413=
NM_001198593.2:c.3441+16878C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16878C>A