Canonical Allele Identifier: CA426125206
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.48915310A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48688171A>T , CM000664.2:g.48688171A>T GRCh38
NC_000002.11:g.48915310A>T , CM000664.1:g.48915310A>T GRCh37
NC_000002.10:g.48768814A>T NCBI36
NG_008193.1:g.72571T>A
NG_033050.1:g.163247A>T
NG_008193.2:g.72571T>A
NG_033050.2:g.163247A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.1626T>A (LHCGR) MANE Select ENSP00000294954.6:p.Ile542=
ENST00000294954.11:c.1626T>A (LHCGR) ENSP00000294954.6:p.Ile542=
ENST00000401907.5:c.948-32T>A (LHCGR) ENSP00000385406.1:n.948-32T>A
ENST00000402114.6:c.3441+16491A>T (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16491A>T
ENST00000403273.5:c.*370T>A (LHCGR) ENSP00000385847.1:n.*370T>A
ENST00000405626.5:c.1545T>A (LHCGR) ENSP00000386033.1:p.Ile515=
ENST00000508440.1:c.276+16491A>T (GTF2A1L) ENSP00000421474.1:n.276+16491A>T
ENST00000602369.3:c.*220+6053T>A ENSP00000473498.1:n.*220+6053T>A
NM_000233.3:c.1626T>A (LHCGR) NP_000224.2:p.Ile542=
NM_001198593.1:c.3441+16491A>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16491A>T
XM_005264309.2:c.669T>A (LHCGR) XP_005264366.1:p.Ile223=
XM_006712015.2:c.696T>A (LHCGR) XP_006712078.1:p.Ile232=
XM_011532828.1:c.1551T>A (LHCGR) XP_011531130.1:p.Ile517=
XM_011532829.1:c.1365T>A (LHCGR) XP_011531131.1:p.Ile455=
XM_011532830.1:c.1284T>A (LHCGR) XP_011531132.1:p.Ile428=
XM_011532831.1:c.990T>A (LHCGR) XP_011531133.1:p.Ile330=
XM_011532832.1:c.696T>A (LHCGR) XP_011531134.1:p.Ile232=
XM_011532833.1:c.696T>A (LHCGR) XP_011531135.1:p.Ile232=
XM_011532834.1:c.669T>A (LHCGR) XP_011531136.1:p.Ile223=
XM_005264309.3:c.669T>A (LHCGR) XP_005264366.1:p.Ile223=
XM_006712015.3:c.696T>A (LHCGR) XP_006712078.1:p.Ile232=
XM_011532834.2:c.669T>A (LHCGR) XP_011531136.1:p.Ile223=
XM_017004089.1:c.1371T>A (LHCGR) XP_016859578.1:p.Ile457=
XM_017004090.1:c.990T>A (LHCGR) XP_016859579.1:p.Ile330=
NM_000233.4:c.1626T>A (LHCGR) MANE Select NP_000224.2:p.Ile542=
NM_001198593.2:c.3441+16491A>T (STON1-GTF2A1L) NP_001185522.1:n.3441+16491A>T