Canonical Allele Identifier: CA346751432

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1558811176
• gnomAD v4: 2-48694224-A-C
• MyVariant Identifiers: chr2:g.48921363A>C (hg19) ; chr2:g.48694224A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694224A>C , CM000664.2:g.48694224A>C	GRCh38
NC_000002.11:g.48921363A>C , CM000664.1:g.48921363A>C	GRCh37
NC_000002.10:g.48774867A>C	NCBI36
NG_008193.1:g.66518T>G
NG_033050.1:g.169300A>C
NG_008193.2:g.66518T>G
NG_033050.2:g.169300A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.947T>G (LHCGR) MANE Select	ENSP00000294954.6:p.Leu316Arg
ENST00000294954.11:c.947T>G (LHCGR)	ENSP00000294954.6:p.Leu316Arg
ENST00000401907.5:c.947T>G (LHCGR)	ENSP00000385406.1:p.Leu316Arg
ENST00000402114.6:c.3441+22544A>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22544A>C
ENST00000403273.5:c.947T>G (LHCGR)	ENSP00000385847.1:p.Leu316Arg
ENST00000405626.5:c.866+4391T>G (LHCGR)	ENSP00000386033.1:n.866+4391T>G
ENST00000508440.1:c.276+22544A>C (GTF2A1L)	ENSP00000421474.1:n.276+22544A>C
ENST00000602369.3:c.*220T>G	ENSP00000473498.1:n.*220T>G
NM_000233.3:c.947T>G (LHCGR)	NP_000224.2:p.Leu316Arg
NM_001198593.1:c.3441+22544A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+22544A>C
XM_005264309.2:c.-11+17T>G (LHCGR)	XP_005264366.1:n.-11+17T>G
XM_011532828.1:c.872T>G (LHCGR)	XP_011531130.1:p.Leu291Arg
XM_011532829.1:c.686T>G (LHCGR)	XP_011531131.1:p.Leu229Arg
XM_011532830.1:c.606-5375T>G (LHCGR)	XP_011531132.1:n.606-5375T>G
XM_011532831.1:c.311T>G (LHCGR)	XP_011531133.1:p.Leu104Arg
XM_005264309.3:c.-11+17T>G (LHCGR)	XP_005264366.1:n.-11+17T>G
XM_017004089.1:c.692T>G (LHCGR)	XP_016859578.1:p.Leu231Arg
XM_017004090.1:c.311T>G (LHCGR)	XP_016859579.1:p.Leu104Arg
NM_000233.4:c.947T>G (LHCGR) MANE Select	NP_000224.2:p.Leu316Arg
NM_001198593.2:c.3441+22544A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+22544A>C