Canonical Allele Identifier: CA426125172

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1420929166
• gnomAD v2: 2-48915535-G-T
• gnomAD v4: 2-48688396-G-T
• MyVariant Identifiers: chr2:g.48915535G>T (hg19) ; chr2:g.48688396G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688396G>T , CM000664.2:g.48688396G>T	GRCh38
NC_000002.11:g.48915535G>T , CM000664.1:g.48915535G>T	GRCh37
NC_000002.10:g.48769039G>T	NCBI36
NG_008193.1:g.72346C>A
NG_033050.1:g.163472G>T
NG_008193.2:g.72346C>A
NG_033050.2:g.163472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1401C>A (LHCGR) MANE Select	ENSP00000294954.6:p.Thr467=
ENST00000294954.11:c.1401C>A (LHCGR)	ENSP00000294954.6:p.Thr467=
ENST00000401907.5:c.948-257C>A (LHCGR)	ENSP00000385406.1:n.948-257C>A
ENST00000402114.6:c.3441+16716G>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16716G>T
ENST00000403273.5:c.*145C>A (LHCGR)	ENSP00000385847.1:n.*145C>A
ENST00000405626.5:c.1320C>A (LHCGR)	ENSP00000386033.1:p.Thr440=
ENST00000508440.1:c.276+16716G>T (GTF2A1L)	ENSP00000421474.1:n.276+16716G>T
ENST00000602369.3:c.*220+5828C>A	ENSP00000473498.1:n.*220+5828C>A
NM_000233.3:c.1401C>A (LHCGR)	NP_000224.2:p.Thr467=
NM_001198593.1:c.3441+16716G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16716G>T
XM_005264309.2:c.444C>A (LHCGR)	XP_005264366.1:p.Thr148=
XM_006712015.2:c.471C>A (LHCGR)	XP_006712078.1:p.Thr157=
XM_011532828.1:c.1326C>A (LHCGR)	XP_011531130.1:p.Thr442=
XM_011532829.1:c.1140C>A (LHCGR)	XP_011531131.1:p.Thr380=
XM_011532830.1:c.1059C>A (LHCGR)	XP_011531132.1:p.Thr353=
XM_011532831.1:c.765C>A (LHCGR)	XP_011531133.1:p.Thr255=
XM_011532832.1:c.471C>A (LHCGR)	XP_011531134.1:p.Thr157=
XM_011532833.1:c.471C>A (LHCGR)	XP_011531135.1:p.Thr157=
XM_011532834.1:c.444C>A (LHCGR)	XP_011531136.1:p.Thr148=
XM_005264309.3:c.444C>A (LHCGR)	XP_005264366.1:p.Thr148=
XM_006712015.3:c.471C>A (LHCGR)	XP_006712078.1:p.Thr157=
XM_011532834.2:c.444C>A (LHCGR)	XP_011531136.1:p.Thr148=
XM_017004089.1:c.1146C>A (LHCGR)	XP_016859578.1:p.Thr382=
XM_017004090.1:c.765C>A (LHCGR)	XP_016859579.1:p.Thr255=
NM_000233.4:c.1401C>A (LHCGR) MANE Select	NP_000224.2:p.Thr467=
NM_001198593.2:c.3441+16716G>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16716G>T