Canonical Allele Identifier: CA426124969

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1165348987
• gnomAD v2: 2-48915238-C-T
• gnomAD v4: 2-48688099-C-T
• MyVariant Identifiers: chr2:g.48915238C>T (hg19) ; chr2:g.48688099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688099C>T , CM000664.2:g.48688099C>T	GRCh38
NC_000002.11:g.48915238C>T , CM000664.1:g.48915238C>T	GRCh37
NC_000002.10:g.48768742C>T	NCBI36
NG_008193.1:g.72643G>A
NG_033050.1:g.163175C>T
NG_008193.2:g.72643G>A
NG_033050.2:g.163175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1698G>A (LHCGR) MANE Select	ENSP00000294954.6:p.Lys566=
ENST00000294954.11:c.1698G>A (LHCGR)	ENSP00000294954.6:p.Lys566=
ENST00000401907.5:c.*10G>A (LHCGR)	ENSP00000385406.1:n.*10G>A
ENST00000402114.6:c.3441+16419C>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16419C>T
ENST00000403273.5:c.*442G>A (LHCGR)	ENSP00000385847.1:n.*442G>A
ENST00000405626.5:c.1617G>A (LHCGR)	ENSP00000386033.1:p.Lys539=
ENST00000508440.1:c.276+16419C>T (GTF2A1L)	ENSP00000421474.1:n.276+16419C>T
ENST00000602369.3:c.*220+6125G>A	ENSP00000473498.1:n.*220+6125G>A
NM_000233.3:c.1698G>A (LHCGR)	NP_000224.2:p.Lys566=
NM_001198593.1:c.3441+16419C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16419C>T
XM_005264309.2:c.741G>A (LHCGR)	XP_005264366.1:p.Lys247=
XM_006712015.2:c.768G>A (LHCGR)	XP_006712078.1:p.Lys256=
XM_011532828.1:c.1623G>A (LHCGR)	XP_011531130.1:p.Lys541=
XM_011532829.1:c.1437G>A (LHCGR)	XP_011531131.1:p.Lys479=
XM_011532830.1:c.1356G>A (LHCGR)	XP_011531132.1:p.Lys452=
XM_011532831.1:c.1062G>A (LHCGR)	XP_011531133.1:p.Lys354=
XM_011532832.1:c.768G>A (LHCGR)	XP_011531134.1:p.Lys256=
XM_011532833.1:c.768G>A (LHCGR)	XP_011531135.1:p.Lys256=
XM_011532834.1:c.741G>A (LHCGR)	XP_011531136.1:p.Lys247=
XM_005264309.3:c.741G>A (LHCGR)	XP_005264366.1:p.Lys247=
XM_006712015.3:c.768G>A (LHCGR)	XP_006712078.1:p.Lys256=
XM_011532834.2:c.741G>A (LHCGR)	XP_011531136.1:p.Lys247=
XM_017004089.1:c.1443G>A (LHCGR)	XP_016859578.1:p.Lys481=
XM_017004090.1:c.1062G>A (LHCGR)	XP_016859579.1:p.Lys354=
NM_000233.4:c.1698G>A (LHCGR) MANE Select	NP_000224.2:p.Lys566=
NM_001198593.2:c.3441+16419C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+16419C>T