Canonical Allele Identifier: CA346743593

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1679975279
• gnomAD v4: 2-48687845-T-G
• MyVariant Identifiers: chr2:g.48914984T>G (hg19) ; chr2:g.48687845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687845T>G , CM000664.2:g.48687845T>G	GRCh38
NC_000002.11:g.48914984T>G , CM000664.1:g.48914984T>G	GRCh37
NC_000002.10:g.48768488T>G	NCBI36
NG_008193.1:g.72897A>C
NG_033050.1:g.162921T>G
NG_008193.2:g.72897A>C
NG_033050.2:g.162921T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1952A>C (LHCGR) MANE Select	ENSP00000294954.6:p.Tyr651Ser
ENST00000294954.11:c.1952A>C (LHCGR)	ENSP00000294954.6:p.Tyr651Ser
ENST00000401907.5:c.*264A>C (LHCGR)	ENSP00000385406.1:n.*264A>C
ENST00000402114.6:c.3441+16165T>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16165T>G
ENST00000403273.5:c.*696A>C (LHCGR)	ENSP00000385847.1:n.*696A>C
ENST00000405626.5:c.1871A>C (LHCGR)	ENSP00000386033.1:p.Tyr624Ser
ENST00000508440.1:c.276+16165T>G (GTF2A1L)	ENSP00000421474.1:n.276+16165T>G
ENST00000602369.3:c.*220+6379A>C	ENSP00000473498.1:n.*220+6379A>C
NM_000233.3:c.1952A>C (LHCGR)	NP_000224.2:p.Tyr651Ser
NM_001198593.1:c.3441+16165T>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16165T>G
XM_005264309.2:c.995A>C (LHCGR)	XP_005264366.1:p.Tyr332Ser
XM_006712015.2:c.1022A>C (LHCGR)	XP_006712078.1:p.Tyr341Ser
XM_011532828.1:c.1877A>C (LHCGR)	XP_011531130.1:p.Tyr626Ser
XM_011532829.1:c.1691A>C (LHCGR)	XP_011531131.1:p.Tyr564Ser
XM_011532830.1:c.1610A>C (LHCGR)	XP_011531132.1:p.Tyr537Ser
XM_011532831.1:c.1316A>C (LHCGR)	XP_011531133.1:p.Tyr439Ser
XM_011532832.1:c.1022A>C (LHCGR)	XP_011531134.1:p.Tyr341Ser
XM_011532833.1:c.1022A>C (LHCGR)	XP_011531135.1:p.Tyr341Ser
XM_011532834.1:c.995A>C (LHCGR)	XP_011531136.1:p.Tyr332Ser
XM_005264309.3:c.995A>C (LHCGR)	XP_005264366.1:p.Tyr332Ser
XM_006712015.3:c.1022A>C (LHCGR)	XP_006712078.1:p.Tyr341Ser
XM_011532834.2:c.995A>C (LHCGR)	XP_011531136.1:p.Tyr332Ser
XM_017004089.1:c.1697A>C (LHCGR)	XP_016859578.1:p.Tyr566Ser
XM_017004090.1:c.1316A>C (LHCGR)	XP_016859579.1:p.Tyr439Ser
NM_000233.4:c.1952A>C (LHCGR) MANE Select	NP_000224.2:p.Tyr651Ser
NM_001198593.2:c.3441+16165T>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16165T>G