Canonical Allele Identifier: CA346742818

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48687714-G-C
• MyVariant Identifiers: chr2:g.48914853G>C (hg19) ; chr2:g.48687714G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687714G>C , CM000664.2:g.48687714G>C	GRCh38
NC_000002.11:g.48914853G>C , CM000664.1:g.48914853G>C	GRCh37
NC_000002.10:g.48768357G>C	NCBI36
NG_008193.1:g.73028C>G
NG_033050.1:g.162790G>C
NG_008193.2:g.73028C>G
NG_033050.2:g.162790G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.2083C>G (LHCGR) MANE Select	ENSP00000294954.6:p.Arg695Gly
ENST00000294954.11:c.2083C>G (LHCGR)	ENSP00000294954.6:p.Arg695Gly
ENST00000401907.5:c.*395C>G (LHCGR)	ENSP00000385406.1:n.*395C>G
ENST00000402114.6:c.3441+16034G>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16034G>C
ENST00000403273.5:c.*827C>G (LHCGR)	ENSP00000385847.1:n.*827C>G
ENST00000405626.5:c.2002C>G (LHCGR)	ENSP00000386033.1:p.Arg668Gly
ENST00000508440.1:c.276+16034G>C (GTF2A1L)	ENSP00000421474.1:n.276+16034G>C
ENST00000602369.3:c.*220+6510C>G	ENSP00000473498.1:n.*220+6510C>G
NM_000233.3:c.2083C>G (LHCGR)	NP_000224.2:p.Arg695Gly
NM_001198593.1:c.3441+16034G>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16034G>C
XM_005264309.2:c.1126C>G (LHCGR)	XP_005264366.1:p.Arg376Gly
XM_006712015.2:c.1153C>G (LHCGR)	XP_006712078.1:p.Arg385Gly
XM_011532828.1:c.2008C>G (LHCGR)	XP_011531130.1:p.Arg670Gly
XM_011532829.1:c.1822C>G (LHCGR)	XP_011531131.1:p.Arg608Gly
XM_011532830.1:c.1741C>G (LHCGR)	XP_011531132.1:p.Arg581Gly
XM_011532831.1:c.1447C>G (LHCGR)	XP_011531133.1:p.Arg483Gly
XM_011532832.1:c.1153C>G (LHCGR)	XP_011531134.1:p.Arg385Gly
XM_011532833.1:c.1153C>G (LHCGR)	XP_011531135.1:p.Arg385Gly
XM_011532834.1:c.1126C>G (LHCGR)	XP_011531136.1:p.Arg376Gly
XM_005264309.3:c.1126C>G (LHCGR)	XP_005264366.1:p.Arg376Gly
XM_006712015.3:c.1153C>G (LHCGR)	XP_006712078.1:p.Arg385Gly
XM_011532834.2:c.1126C>G (LHCGR)	XP_011531136.1:p.Arg376Gly
XM_017004089.1:c.1828C>G (LHCGR)	XP_016859578.1:p.Arg610Gly
XM_017004090.1:c.1447C>G (LHCGR)	XP_016859579.1:p.Arg483Gly
NM_000233.4:c.2083C>G (LHCGR) MANE Select	NP_000224.2:p.Arg695Gly
NM_001198593.2:c.3441+16034G>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16034G>C