Canonical Allele Identifier: CA346750336

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1410765914
• gnomAD v3: 2-48688810-C-T
• gnomAD v4: 2-48688810-C-T
• MyVariant Identifiers: chr2:g.48915949C>T (hg19) ; chr2:g.48688810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688810C>T , CM000664.2:g.48688810C>T	GRCh38
NC_000002.11:g.48915949C>T , CM000664.1:g.48915949C>T	GRCh37
NC_000002.10:g.48769453C>T	NCBI36
NG_008193.1:g.71932G>A
NG_033050.1:g.163886C>T
NG_008193.2:g.71932G>A
NG_033050.2:g.163886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.987G>A (LHCGR) MANE Select	ENSP00000294954.6:p.Trp329Ter
ENST00000294954.11:c.987G>A (LHCGR)	ENSP00000294954.6:p.Trp329Ter
ENST00000401907.5:c.948-671G>A (LHCGR)	ENSP00000385406.1:n.948-671G>A
ENST00000402114.6:c.3441+17130C>T (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17130C>T
ENST00000403273.5:c.948-227G>A (LHCGR)	ENSP00000385847.1:n.948-227G>A
ENST00000405626.5:c.906G>A (LHCGR)	ENSP00000386033.1:p.Trp302Ter
ENST00000508440.1:c.276+17130C>T (GTF2A1L)	ENSP00000421474.1:n.276+17130C>T
ENST00000602369.3:c.*220+5414G>A	ENSP00000473498.1:n.*220+5414G>A
NM_000233.3:c.987G>A (LHCGR)	NP_000224.2:p.Trp329Ter
NM_001198593.1:c.3441+17130C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+17130C>T
XM_005264309.2:c.30G>A (LHCGR)	XP_005264366.1:p.Trp10Ter
XM_006712015.2:c.57G>A (LHCGR)	XP_006712078.1:p.Trp19Ter
XM_011532828.1:c.912G>A (LHCGR)	XP_011531130.1:p.Trp304Ter
XM_011532829.1:c.726G>A (LHCGR)	XP_011531131.1:p.Trp242Ter
XM_011532830.1:c.645G>A (LHCGR)	XP_011531132.1:p.Trp215Ter
XM_011532831.1:c.351G>A (LHCGR)	XP_011531133.1:p.Trp117Ter
XM_011532832.1:c.57G>A (LHCGR)	XP_011531134.1:p.Trp19Ter
XM_011532833.1:c.57G>A (LHCGR)	XP_011531135.1:p.Trp19Ter
XM_011532834.1:c.30G>A (LHCGR)	XP_011531136.1:p.Trp10Ter
XM_005264309.3:c.30G>A (LHCGR)	XP_005264366.1:p.Trp10Ter
XM_006712015.3:c.57G>A (LHCGR)	XP_006712078.1:p.Trp19Ter
XM_011532834.2:c.30G>A (LHCGR)	XP_011531136.1:p.Trp10Ter
XM_017004089.1:c.732G>A (LHCGR)	XP_016859578.1:p.Trp244Ter
XM_017004090.1:c.351G>A (LHCGR)	XP_016859579.1:p.Trp117Ter
NM_000233.4:c.987G>A (LHCGR) MANE Select	NP_000224.2:p.Trp329Ter
NM_001198593.2:c.3441+17130C>T (STON1-GTF2A1L)	NP_001185522.1:n.3441+17130C>T