Canonical Allele Identifier: CA346744288

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1679983631
• MyVariant Identifiers: chr2:g.48915101T>C (hg19) ; chr2:g.48687962T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687962T>C , CM000664.2:g.48687962T>C	GRCh38
NC_000002.11:g.48915101T>C , CM000664.1:g.48915101T>C	GRCh37
NC_000002.10:g.48768605T>C	NCBI36
NG_008193.1:g.72780A>G
NG_033050.1:g.163038T>C
NG_008193.2:g.72780A>G
NG_033050.2:g.163038T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1835A>G (LHCGR) MANE Select	ENSP00000294954.6:p.Tyr612Cys
ENST00000294954.11:c.1835A>G (LHCGR)	ENSP00000294954.6:p.Tyr612Cys
ENST00000401907.5:c.*147A>G (LHCGR)	ENSP00000385406.1:n.*147A>G
ENST00000402114.6:c.3441+16282T>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16282T>C
ENST00000403273.5:c.*579A>G (LHCGR)	ENSP00000385847.1:n.*579A>G
ENST00000405626.5:c.1754A>G (LHCGR)	ENSP00000386033.1:p.Tyr585Cys
ENST00000508440.1:c.276+16282T>C (GTF2A1L)	ENSP00000421474.1:n.276+16282T>C
ENST00000602369.3:c.*220+6262A>G	ENSP00000473498.1:n.*220+6262A>G
NM_000233.3:c.1835A>G (LHCGR)	NP_000224.2:p.Tyr612Cys
NM_001198593.1:c.3441+16282T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16282T>C
XM_005264309.2:c.878A>G (LHCGR)	XP_005264366.1:p.Tyr293Cys
XM_006712015.2:c.905A>G (LHCGR)	XP_006712078.1:p.Tyr302Cys
XM_011532828.1:c.1760A>G (LHCGR)	XP_011531130.1:p.Tyr587Cys
XM_011532829.1:c.1574A>G (LHCGR)	XP_011531131.1:p.Tyr525Cys
XM_011532830.1:c.1493A>G (LHCGR)	XP_011531132.1:p.Tyr498Cys
XM_011532831.1:c.1199A>G (LHCGR)	XP_011531133.1:p.Tyr400Cys
XM_011532832.1:c.905A>G (LHCGR)	XP_011531134.1:p.Tyr302Cys
XM_011532833.1:c.905A>G (LHCGR)	XP_011531135.1:p.Tyr302Cys
XM_011532834.1:c.878A>G (LHCGR)	XP_011531136.1:p.Tyr293Cys
XM_005264309.3:c.878A>G (LHCGR)	XP_005264366.1:p.Tyr293Cys
XM_006712015.3:c.905A>G (LHCGR)	XP_006712078.1:p.Tyr302Cys
XM_011532834.2:c.878A>G (LHCGR)	XP_011531136.1:p.Tyr293Cys
XM_017004089.1:c.1580A>G (LHCGR)	XP_016859578.1:p.Tyr527Cys
XM_017004090.1:c.1199A>G (LHCGR)	XP_016859579.1:p.Tyr400Cys
NM_000233.4:c.1835A>G (LHCGR) MANE Select	NP_000224.2:p.Tyr612Cys
NM_001198593.2:c.3441+16282T>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16282T>C