Canonical Allele Identifier: CA346743614

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48914989T>A (hg19) ; chr2:g.48687850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687850T>A , CM000664.2:g.48687850T>A	GRCh38
NC_000002.11:g.48914989T>A , CM000664.1:g.48914989T>A	GRCh37
NC_000002.10:g.48768493T>A	NCBI36
NG_008193.1:g.72892A>T
NG_033050.1:g.162926T>A
NG_008193.2:g.72892A>T
NG_033050.2:g.162926T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1947A>T (LHCGR) MANE Select	ENSP00000294954.6:p.Glu649Asp
ENST00000294954.11:c.1947A>T (LHCGR)	ENSP00000294954.6:p.Glu649Asp
ENST00000401907.5:c.*259A>T (LHCGR)	ENSP00000385406.1:n.*259A>T
ENST00000402114.6:c.3441+16170T>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16170T>A
ENST00000403273.5:c.*691A>T (LHCGR)	ENSP00000385847.1:n.*691A>T
ENST00000405626.5:c.1866A>T (LHCGR)	ENSP00000386033.1:p.Glu622Asp
ENST00000508440.1:c.276+16170T>A (GTF2A1L)	ENSP00000421474.1:n.276+16170T>A
ENST00000602369.3:c.*220+6374A>T	ENSP00000473498.1:n.*220+6374A>T
NM_000233.3:c.1947A>T (LHCGR)	NP_000224.2:p.Glu649Asp
NM_001198593.1:c.3441+16170T>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16170T>A
XM_005264309.2:c.990A>T (LHCGR)	XP_005264366.1:p.Glu330Asp
XM_006712015.2:c.1017A>T (LHCGR)	XP_006712078.1:p.Glu339Asp
XM_011532828.1:c.1872A>T (LHCGR)	XP_011531130.1:p.Glu624Asp
XM_011532829.1:c.1686A>T (LHCGR)	XP_011531131.1:p.Glu562Asp
XM_011532830.1:c.1605A>T (LHCGR)	XP_011531132.1:p.Glu535Asp
XM_011532831.1:c.1311A>T (LHCGR)	XP_011531133.1:p.Glu437Asp
XM_011532832.1:c.1017A>T (LHCGR)	XP_011531134.1:p.Glu339Asp
XM_011532833.1:c.1017A>T (LHCGR)	XP_011531135.1:p.Glu339Asp
XM_011532834.1:c.990A>T (LHCGR)	XP_011531136.1:p.Glu330Asp
XM_005264309.3:c.990A>T (LHCGR)	XP_005264366.1:p.Glu330Asp
XM_006712015.3:c.1017A>T (LHCGR)	XP_006712078.1:p.Glu339Asp
XM_011532834.2:c.990A>T (LHCGR)	XP_011531136.1:p.Glu330Asp
XM_017004089.1:c.1692A>T (LHCGR)	XP_016859578.1:p.Glu564Asp
XM_017004090.1:c.1311A>T (LHCGR)	XP_016859579.1:p.Glu437Asp
NM_000233.4:c.1947A>T (LHCGR) MANE Select	NP_000224.2:p.Glu649Asp
NM_001198593.2:c.3441+16170T>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+16170T>A