Canonical Allele Identifier: CA346750370

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs754148623
• gnomAD v2: 2-48915955-A-T
• gnomAD v4: 2-48688816-A-T
• MyVariant Identifiers: chr2:g.48915955A>T (hg19) ; chr2:g.48688816A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688816A>T , CM000664.2:g.48688816A>T	GRCh38
NC_000002.11:g.48915955A>T , CM000664.1:g.48915955A>T	GRCh37
NC_000002.10:g.48769459A>T	NCBI36
NG_008193.1:g.71926T>A
NG_033050.1:g.163892A>T
NG_008193.2:g.71926T>A
NG_033050.2:g.163892A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.981T>A (LHCGR) MANE Select	ENSP00000294954.6:p.Ser327Arg
ENST00000294954.11:c.981T>A (LHCGR)	ENSP00000294954.6:p.Ser327Arg
ENST00000401907.5:c.948-677T>A (LHCGR)	ENSP00000385406.1:n.948-677T>A
ENST00000402114.6:c.3441+17136A>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17136A>T
ENST00000403273.5:c.948-233T>A (LHCGR)	ENSP00000385847.1:n.948-233T>A
ENST00000405626.5:c.900T>A (LHCGR)	ENSP00000386033.1:p.Ser300Arg
ENST00000508440.1:c.276+17136A>T (GTF2A1L)	ENSP00000421474.1:n.276+17136A>T
ENST00000602369.3:c.*220+5408T>A	ENSP00000473498.1:n.*220+5408T>A
NM_000233.3:c.981T>A (LHCGR)	NP_000224.2:p.Ser327Arg
NM_001198593.1:c.3441+17136A>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+17136A>T
XM_005264309.2:c.24T>A (LHCGR)	XP_005264366.1:p.Ser8Arg
XM_006712015.2:c.51T>A (LHCGR)	XP_006712078.1:p.Ser17Arg
XM_011532828.1:c.906T>A (LHCGR)	XP_011531130.1:p.Ser302Arg
XM_011532829.1:c.720T>A (LHCGR)	XP_011531131.1:p.Ser240Arg
XM_011532830.1:c.639T>A (LHCGR)	XP_011531132.1:p.Ser213Arg
XM_011532831.1:c.345T>A (LHCGR)	XP_011531133.1:p.Ser115Arg
XM_011532832.1:c.51T>A (LHCGR)	XP_011531134.1:p.Ser17Arg
XM_011532833.1:c.51T>A (LHCGR)	XP_011531135.1:p.Ser17Arg
XM_011532834.1:c.24T>A (LHCGR)	XP_011531136.1:p.Ser8Arg
XM_005264309.3:c.24T>A (LHCGR)	XP_005264366.1:p.Ser8Arg
XM_006712015.3:c.51T>A (LHCGR)	XP_006712078.1:p.Ser17Arg
XM_011532834.2:c.24T>A (LHCGR)	XP_011531136.1:p.Ser8Arg
XM_017004089.1:c.726T>A (LHCGR)	XP_016859578.1:p.Ser242Arg
XM_017004090.1:c.345T>A (LHCGR)	XP_016859579.1:p.Ser115Arg
NM_000233.4:c.981T>A (LHCGR) MANE Select	NP_000224.2:p.Ser327Arg
NM_001198593.2:c.3441+17136A>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+17136A>T