Canonical Allele Identifier: CA426125099
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48688363-C-T
MyVariant Identifiers: chr2:g.48915502C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688363C>T , CM000664.2:g.48688363C>T GRCh38
NC_000002.11:g.48915502C>T , CM000664.1:g.48915502C>T GRCh37
NC_000002.10:g.48769006C>T NCBI36
NG_008193.1:g.72379G>A
NG_033050.1:g.163439C>T
NG_008193.2:g.72379G>A
NG_033050.2:g.163439C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1434G>A (LHCGR) MANE Select ENSP00000294954.6:p.Leu478=
ENST00000294954.11:c.1434G>A (LHCGR) ENSP00000294954.6:p.Leu478=
ENST00000401907.5:c.948-224G>A (LHCGR) ENSP00000385406.1:n.948-224G>A
ENST00000402114.6:c.3441+16683C>T (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16683C>T
ENST00000403273.5:c.*178G>A (LHCGR) ENSP00000385847.1:n.*178G>A
ENST00000405626.5:c.1353G>A (LHCGR) ENSP00000386033.1:p.Leu451=
ENST00000508440.1:c.276+16683C>T (GTF2A1L) ENSP00000421474.1:n.276+16683C>T
ENST00000602369.3:c.*220+5861G>A ENSP00000473498.1:n.*220+5861G>A
NM_000233.3:c.1434G>A (LHCGR) NP_000224.2:p.Leu478=
NM_001198593.1:c.3441+16683C>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16683C>T
XM_005264309.2:c.477G>A (LHCGR) XP_005264366.1:p.Leu159=
XM_006712015.2:c.504G>A (LHCGR) XP_006712078.1:p.Leu168=
XM_011532828.1:c.1359G>A (LHCGR) XP_011531130.1:p.Leu453=
XM_011532829.1:c.1173G>A (LHCGR) XP_011531131.1:p.Leu391=
XM_011532830.1:c.1092G>A (LHCGR) XP_011531132.1:p.Leu364=
XM_011532831.1:c.798G>A (LHCGR) XP_011531133.1:p.Leu266=
XM_011532832.1:c.504G>A (LHCGR) XP_011531134.1:p.Leu168=
XM_011532833.1:c.504G>A (LHCGR) XP_011531135.1:p.Leu168=
XM_011532834.1:c.477G>A (LHCGR) XP_011531136.1:p.Leu159=
XM_005264309.3:c.477G>A (LHCGR) XP_005264366.1:p.Leu159=
XM_006712015.3:c.504G>A (LHCGR) XP_006712078.1:p.Leu168=
XM_011532834.2:c.477G>A (LHCGR) XP_011531136.1:p.Leu159=
XM_017004089.1:c.1179G>A (LHCGR) XP_016859578.1:p.Leu393=
XM_017004090.1:c.798G>A (LHCGR) XP_016859579.1:p.Leu266=
NM_000233.4:c.1434G>A (LHCGR) MANE Select NP_000224.2:p.Leu478=
NM_001198593.2:c.3441+16683C>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16683C>T