Canonical Allele Identifier: CA346746689

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• MyVariant Identifiers: chr2:g.48915440A>C (hg19) ; chr2:g.48688301A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688301A>C , CM000664.2:g.48688301A>C	GRCh38
NC_000002.11:g.48915440A>C , CM000664.1:g.48915440A>C	GRCh37
NC_000002.10:g.48768944A>C	NCBI36
NG_008193.1:g.72441T>G
NG_033050.1:g.163377A>C
NG_008193.2:g.72441T>G
NG_033050.2:g.163377A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1496T>G (LHCGR) MANE Select	ENSP00000294954.6:p.Met499Arg
ENST00000294954.11:c.1496T>G (LHCGR)	ENSP00000294954.6:p.Met499Arg
ENST00000401907.5:c.948-162T>G (LHCGR)	ENSP00000385406.1:n.948-162T>G
ENST00000402114.6:c.3441+16621A>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16621A>C
ENST00000403273.5:c.*240T>G (LHCGR)	ENSP00000385847.1:n.*240T>G
ENST00000405626.5:c.1415T>G (LHCGR)	ENSP00000386033.1:p.Met472Arg
ENST00000508440.1:c.276+16621A>C (GTF2A1L)	ENSP00000421474.1:n.276+16621A>C
ENST00000602369.3:c.*220+5923T>G	ENSP00000473498.1:n.*220+5923T>G
NM_000233.3:c.1496T>G (LHCGR)	NP_000224.2:p.Met499Arg
NM_001198593.1:c.3441+16621A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16621A>C
XM_005264309.2:c.539T>G (LHCGR)	XP_005264366.1:p.Met180Arg
XM_006712015.2:c.566T>G (LHCGR)	XP_006712078.1:p.Met189Arg
XM_011532828.1:c.1421T>G (LHCGR)	XP_011531130.1:p.Met474Arg
XM_011532829.1:c.1235T>G (LHCGR)	XP_011531131.1:p.Met412Arg
XM_011532830.1:c.1154T>G (LHCGR)	XP_011531132.1:p.Met385Arg
XM_011532831.1:c.860T>G (LHCGR)	XP_011531133.1:p.Met287Arg
XM_011532832.1:c.566T>G (LHCGR)	XP_011531134.1:p.Met189Arg
XM_011532833.1:c.566T>G (LHCGR)	XP_011531135.1:p.Met189Arg
XM_011532834.1:c.539T>G (LHCGR)	XP_011531136.1:p.Met180Arg
XM_005264309.3:c.539T>G (LHCGR)	XP_005264366.1:p.Met180Arg
XM_006712015.3:c.566T>G (LHCGR)	XP_006712078.1:p.Met189Arg
XM_011532834.2:c.539T>G (LHCGR)	XP_011531136.1:p.Met180Arg
XM_017004089.1:c.1241T>G (LHCGR)	XP_016859578.1:p.Met414Arg
XM_017004090.1:c.860T>G (LHCGR)	XP_016859579.1:p.Met287Arg
NM_000233.4:c.1496T>G (LHCGR) MANE Select	NP_000224.2:p.Met499Arg
NM_001198593.2:c.3441+16621A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16621A>C