Canonical Allele Identifier: CA46753482

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs899882970
• gnomAD v3: 2-48688820-A-T
• gnomAD v4: 2-48688820-A-T
• MyVariant Identifiers: chr2:g.48915959A>T (hg19) ; chr2:g.48688820A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688820A>T , CM000664.2:g.48688820A>T	GRCh38
NC_000002.11:g.48915959A>T , CM000664.1:g.48915959A>T	GRCh37
NC_000002.10:g.48769463A>T	NCBI36
NG_008193.1:g.71922T>A
NG_033050.1:g.163896A>T
NG_008193.2:g.71922T>A
NG_033050.2:g.163896A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.977T>A (LHCGR) MANE Select	ENSP00000294954.6:p.Leu326Gln
ENST00000294954.11:c.977T>A (LHCGR)	ENSP00000294954.6:p.Leu326Gln
ENST00000401907.5:c.948-681T>A (LHCGR)	ENSP00000385406.1:n.948-681T>A
ENST00000402114.6:c.3441+17140A>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17140A>T
ENST00000403273.5:c.948-237T>A (LHCGR)	ENSP00000385847.1:n.948-237T>A
ENST00000405626.5:c.896T>A (LHCGR)	ENSP00000386033.1:p.Leu299Gln
ENST00000508440.1:c.276+17140A>T (GTF2A1L)	ENSP00000421474.1:n.276+17140A>T
ENST00000602369.3:c.*220+5404T>A	ENSP00000473498.1:n.*220+5404T>A
NM_000233.3:c.977T>A (LHCGR)	NP_000224.2:p.Leu326Gln
NM_001198593.1:c.3441+17140A>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+17140A>T
XM_005264309.2:c.20T>A (LHCGR)	XP_005264366.1:p.Leu7Gln
XM_006712015.2:c.47T>A (LHCGR)	XP_006712078.1:p.Leu16Gln
XM_011532828.1:c.902T>A (LHCGR)	XP_011531130.1:p.Leu301Gln
XM_011532829.1:c.716T>A (LHCGR)	XP_011531131.1:p.Leu239Gln
XM_011532830.1:c.635T>A (LHCGR)	XP_011531132.1:p.Leu212Gln
XM_011532831.1:c.341T>A (LHCGR)	XP_011531133.1:p.Leu114Gln
XM_011532832.1:c.47T>A (LHCGR)	XP_011531134.1:p.Leu16Gln
XM_011532833.1:c.47T>A (LHCGR)	XP_011531135.1:p.Leu16Gln
XM_011532834.1:c.20T>A (LHCGR)	XP_011531136.1:p.Leu7Gln
XM_005264309.3:c.20T>A (LHCGR)	XP_005264366.1:p.Leu7Gln
XM_006712015.3:c.47T>A (LHCGR)	XP_006712078.1:p.Leu16Gln
XM_011532834.2:c.20T>A (LHCGR)	XP_011531136.1:p.Leu7Gln
XM_017004089.1:c.722T>A (LHCGR)	XP_016859578.1:p.Leu241Gln
XM_017004090.1:c.341T>A (LHCGR)	XP_016859579.1:p.Leu114Gln
NM_000233.4:c.977T>A (LHCGR) MANE Select	NP_000224.2:p.Leu326Gln
NM_001198593.2:c.3441+17140A>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+17140A>T