Canonical Allele Identifier: CA426125424
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.48915064T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48687925T>C , CM000664.2:g.48687925T>C GRCh38
NC_000002.11:g.48915064T>C , CM000664.1:g.48915064T>C GRCh37
NC_000002.10:g.48768568T>C NCBI36
NG_008193.1:g.72817A>G
NG_033050.1:g.163001T>C
NG_008193.2:g.72817A>G
NG_033050.2:g.163001T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.1872A>G (LHCGR) MANE Select ENSP00000294954.6:p.Ala624=
ENST00000294954.11:c.1872A>G (LHCGR) ENSP00000294954.6:p.Ala624=
ENST00000401907.5:c.*184A>G (LHCGR) ENSP00000385406.1:n.*184A>G
ENST00000402114.6:c.3441+16245T>C (STON1-GTF2A1L) ENSP00000385701.1:n.3441+16245T>C
ENST00000403273.5:c.*616A>G (LHCGR) ENSP00000385847.1:n.*616A>G
ENST00000405626.5:c.1791A>G (LHCGR) ENSP00000386033.1:p.Ala597=
ENST00000508440.1:c.276+16245T>C (GTF2A1L) ENSP00000421474.1:n.276+16245T>C
ENST00000602369.3:c.*220+6299A>G ENSP00000473498.1:n.*220+6299A>G
NM_000233.3:c.1872A>G (LHCGR) NP_000224.2:p.Ala624=
NM_001198593.1:c.3441+16245T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16245T>C
XM_005264309.2:c.915A>G (LHCGR) XP_005264366.1:p.Ala305=
XM_006712015.2:c.942A>G (LHCGR) XP_006712078.1:p.Ala314=
XM_011532828.1:c.1797A>G (LHCGR) XP_011531130.1:p.Ala599=
XM_011532829.1:c.1611A>G (LHCGR) XP_011531131.1:p.Ala537=
XM_011532830.1:c.1530A>G (LHCGR) XP_011531132.1:p.Ala510=
XM_011532831.1:c.1236A>G (LHCGR) XP_011531133.1:p.Ala412=
XM_011532832.1:c.942A>G (LHCGR) XP_011531134.1:p.Ala314=
XM_011532833.1:c.942A>G (LHCGR) XP_011531135.1:p.Ala314=
XM_011532834.1:c.915A>G (LHCGR) XP_011531136.1:p.Ala305=
XM_005264309.3:c.915A>G (LHCGR) XP_005264366.1:p.Ala305=
XM_006712015.3:c.942A>G (LHCGR) XP_006712078.1:p.Ala314=
XM_011532834.2:c.915A>G (LHCGR) XP_011531136.1:p.Ala305=
XM_017004089.1:c.1617A>G (LHCGR) XP_016859578.1:p.Ala539=
XM_017004090.1:c.1236A>G (LHCGR) XP_016859579.1:p.Ala412=
NM_000233.4:c.1872A>G (LHCGR) MANE Select NP_000224.2:p.Ala624=
NM_001198593.2:c.3441+16245T>C (STON1-GTF2A1L) NP_001185522.1:n.3441+16245T>C