Canonical Allele Identifier: CA426124778
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.48915880G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688741G>T , CM000664.2:g.48688741G>T GRCh38
NC_000002.11:g.48915880G>T , CM000664.1:g.48915880G>T GRCh37
NC_000002.10:g.48769384G>T NCBI36
NG_008193.1:g.72001C>A
NG_033050.1:g.163817G>T
NG_008193.2:g.72001C>A
NG_033050.2:g.163817G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.1056C>A (LHCGR) MANE Select ENSP00000294954.6:p.Pro352=
ENST00000294954.11:c.1056C>A (LHCGR) ENSP00000294954.6:p.Pro352=
ENST00000401907.5:c.948-602C>A (LHCGR) ENSP00000385406.1:n.948-602C>A
ENST00000402114.6:c.3441+17061G>T (STON1-GTF2A1L) ENSP00000385701.1:n.3441+17061G>T
ENST00000403273.5:c.948-158C>A (LHCGR) ENSP00000385847.1:n.948-158C>A
ENST00000405626.5:c.975C>A (LHCGR) ENSP00000386033.1:p.Pro325=
ENST00000508440.1:c.276+17061G>T (GTF2A1L) ENSP00000421474.1:n.276+17061G>T
ENST00000602369.3:c.*220+5483C>A ENSP00000473498.1:n.*220+5483C>A
NM_000233.3:c.1056C>A (LHCGR) NP_000224.2:p.Pro352=
NM_001198593.1:c.3441+17061G>T (STON1-GTF2A1L) NP_001185522.1:n.3441+17061G>T
XM_005264309.2:c.99C>A (LHCGR) XP_005264366.1:p.Pro33=
XM_006712015.2:c.126C>A (LHCGR) XP_006712078.1:p.Pro42=
XM_011532828.1:c.981C>A (LHCGR) XP_011531130.1:p.Pro327=
XM_011532829.1:c.795C>A (LHCGR) XP_011531131.1:p.Pro265=
XM_011532830.1:c.714C>A (LHCGR) XP_011531132.1:p.Pro238=
XM_011532831.1:c.420C>A (LHCGR) XP_011531133.1:p.Pro140=
XM_011532832.1:c.126C>A (LHCGR) XP_011531134.1:p.Pro42=
XM_011532833.1:c.126C>A (LHCGR) XP_011531135.1:p.Pro42=
XM_011532834.1:c.99C>A (LHCGR) XP_011531136.1:p.Pro33=
XM_005264309.3:c.99C>A (LHCGR) XP_005264366.1:p.Pro33=
XM_006712015.3:c.126C>A (LHCGR) XP_006712078.1:p.Pro42=
XM_011532834.2:c.99C>A (LHCGR) XP_011531136.1:p.Pro33=
XM_017004089.1:c.801C>A (LHCGR) XP_016859578.1:p.Pro267=
XM_017004090.1:c.420C>A (LHCGR) XP_016859579.1:p.Pro140=
NM_000233.4:c.1056C>A (LHCGR) MANE Select NP_000224.2:p.Pro352=
NM_001198593.2:c.3441+17061G>T (STON1-GTF2A1L) NP_001185522.1:n.3441+17061G>T