Canonical Allele Identifier: CA346749999

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915892A>C (hg19) ; chr2:g.48688753A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688753A>C , CM000664.2:g.48688753A>C	GRCh38
NC_000002.11:g.48915892A>C , CM000664.1:g.48915892A>C	GRCh37
NC_000002.10:g.48769396A>C	NCBI36
NG_008193.1:g.71989T>G
NG_033050.1:g.163829A>C
NG_008193.2:g.71989T>G
NG_033050.2:g.163829A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1044T>G (LHCGR) MANE Select	ENSP00000294954.6:p.Asp348Glu
ENST00000294954.11:c.1044T>G (LHCGR)	ENSP00000294954.6:p.Asp348Glu
ENST00000401907.5:c.948-614T>G (LHCGR)	ENSP00000385406.1:n.948-614T>G
ENST00000402114.6:c.3441+17073A>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17073A>C
ENST00000403273.5:c.948-170T>G (LHCGR)	ENSP00000385847.1:n.948-170T>G
ENST00000405626.5:c.963T>G (LHCGR)	ENSP00000386033.1:p.Asp321Glu
ENST00000508440.1:c.276+17073A>C (GTF2A1L)	ENSP00000421474.1:n.276+17073A>C
ENST00000602369.3:c.*220+5471T>G	ENSP00000473498.1:n.*220+5471T>G
NM_000233.3:c.1044T>G (LHCGR)	NP_000224.2:p.Asp348Glu
NM_001198593.1:c.3441+17073A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+17073A>C
XM_005264309.2:c.87T>G (LHCGR)	XP_005264366.1:p.Asp29Glu
XM_006712015.2:c.114T>G (LHCGR)	XP_006712078.1:p.Asp38Glu
XM_011532828.1:c.969T>G (LHCGR)	XP_011531130.1:p.Asp323Glu
XM_011532829.1:c.783T>G (LHCGR)	XP_011531131.1:p.Asp261Glu
XM_011532830.1:c.702T>G (LHCGR)	XP_011531132.1:p.Asp234Glu
XM_011532831.1:c.408T>G (LHCGR)	XP_011531133.1:p.Asp136Glu
XM_011532832.1:c.114T>G (LHCGR)	XP_011531134.1:p.Asp38Glu
XM_011532833.1:c.114T>G (LHCGR)	XP_011531135.1:p.Asp38Glu
XM_011532834.1:c.87T>G (LHCGR)	XP_011531136.1:p.Asp29Glu
XM_005264309.3:c.87T>G (LHCGR)	XP_005264366.1:p.Asp29Glu
XM_006712015.3:c.114T>G (LHCGR)	XP_006712078.1:p.Asp38Glu
XM_011532834.2:c.87T>G (LHCGR)	XP_011531136.1:p.Asp29Glu
XM_017004089.1:c.789T>G (LHCGR)	XP_016859578.1:p.Asp263Glu
XM_017004090.1:c.408T>G (LHCGR)	XP_016859579.1:p.Asp136Glu
NM_000233.4:c.1044T>G (LHCGR) MANE Select	NP_000224.2:p.Asp348Glu
NM_001198593.2:c.3441+17073A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+17073A>C