Canonical Allele Identifier: CA532361729

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1411532194
• gnomAD v2: 2-48921316-A-G
• gnomAD v4: 2-48694177-A-G
• MyVariant Identifiers: chr2:g.48921316A>G (hg19) ; chr2:g.48694177A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694177A>G , CM000664.2:g.48694177A>G	GRCh38
NC_000002.11:g.48921316A>G , CM000664.1:g.48921316A>G	GRCh37
NC_000002.10:g.48774820A>G	NCBI36
NG_008193.1:g.66565T>C
NG_033050.1:g.169253A>G
NG_008193.2:g.66565T>C
NG_033050.2:g.169253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.947+47T>C (LHCGR) MANE Select	ENSP00000294954.6:n.947+47T>C
ENST00000294954.11:c.947+47T>C (LHCGR)	ENSP00000294954.6:n.947+47T>C
ENST00000401907.5:c.947+47T>C (LHCGR)	ENSP00000385406.1:n.947+47T>C
ENST00000402114.6:c.3441+22497A>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22497A>G
ENST00000403273.5:c.947+47T>C (LHCGR)	ENSP00000385847.1:n.947+47T>C
ENST00000405626.5:c.866+4438T>C (LHCGR)	ENSP00000386033.1:n.866+4438T>C
ENST00000508440.1:c.276+22497A>G (GTF2A1L)	ENSP00000421474.1:n.276+22497A>G
ENST00000602369.3:c.*220+47T>C	ENSP00000473498.1:n.*220+47T>C
NM_000233.3:c.947+47T>C (LHCGR)	NP_000224.2:n.947+47T>C
NM_001198593.1:c.3441+22497A>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+22497A>G
XM_005264309.2:c.-11+64T>C (LHCGR)	XP_005264366.1:n.-11+64T>C
XM_006712015.2:c.-913T>C (LHCGR)	XP_006712078.1:n.-913T>C
XM_011532828.1:c.872+47T>C (LHCGR)	XP_011531130.1:n.872+47T>C
XM_011532829.1:c.686+47T>C (LHCGR)	XP_011531131.1:n.686+47T>C
XM_011532830.1:c.606-5328T>C (LHCGR)	XP_011531132.1:n.606-5328T>C
XM_011532831.1:c.311+47T>C (LHCGR)	XP_011531133.1:n.311+47T>C
XM_011532832.1:c.-480T>C (LHCGR)	XP_011531134.1:n.-480T>C
XM_011532833.1:c.-476T>C (LHCGR)	XP_011531135.1:n.-476T>C
XM_011532834.1:c.-282T>C (LHCGR)	XP_011531136.1:n.-282T>C
XM_005264309.3:c.-11+64T>C (LHCGR)	XP_005264366.1:n.-11+64T>C
XM_006712015.3:c.-913T>C (LHCGR)	XP_006712078.1:n.-913T>C
XM_011532834.2:c.-282T>C (LHCGR)	XP_011531136.1:n.-282T>C
XM_017004089.1:c.692+47T>C (LHCGR)	XP_016859578.1:n.692+47T>C
XM_017004090.1:c.311+47T>C (LHCGR)	XP_016859579.1:n.311+47T>C
NM_000233.4:c.947+47T>C (LHCGR) MANE Select	NP_000224.2:n.947+47T>C
NM_001198593.2:c.3441+22497A>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+22497A>G