Canonical Allele Identifier: CA346751555

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48694244-C-G
• MyVariant Identifiers: chr2:g.48921383C>G (hg19) ; chr2:g.48694244C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694244C>G , CM000664.2:g.48694244C>G	GRCh38
NC_000002.11:g.48921383C>G , CM000664.1:g.48921383C>G	GRCh37
NC_000002.10:g.48774887C>G	NCBI36
NG_008193.1:g.66498G>C
NG_033050.1:g.169320C>G
NG_008193.2:g.66498G>C
NG_033050.2:g.169320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.927G>C (LHCGR) MANE Select	ENSP00000294954.6:p.Arg309Ser
ENST00000294954.11:c.927G>C (LHCGR)	ENSP00000294954.6:p.Arg309Ser
ENST00000401907.5:c.927G>C (LHCGR)	ENSP00000385406.1:p.Arg309Ser
ENST00000402114.6:c.3441+22564C>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22564C>G
ENST00000403273.5:c.927G>C (LHCGR)	ENSP00000385847.1:p.Arg309Ser
ENST00000405626.5:c.866+4371G>C (LHCGR)	ENSP00000386033.1:n.866+4371G>C
ENST00000508440.1:c.276+22564C>G (GTF2A1L)	ENSP00000421474.1:n.276+22564C>G
ENST00000602369.3:c.*200G>C	ENSP00000473498.1:n.*200G>C
NM_000233.3:c.927G>C (LHCGR)	NP_000224.2:p.Arg309Ser
NM_001198593.1:c.3441+22564C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+22564C>G
XM_005264309.2:c.-14G>C (LHCGR)	XP_005264366.1:n.-14G>C
XM_011532828.1:c.852G>C (LHCGR)	XP_011531130.1:p.Arg284Ser
XM_011532829.1:c.666G>C (LHCGR)	XP_011531131.1:p.Arg222Ser
XM_011532830.1:c.606-5395G>C (LHCGR)	XP_011531132.1:n.606-5395G>C
XM_011532831.1:c.291G>C (LHCGR)	XP_011531133.1:p.Arg97Ser
XM_005264309.3:c.-14G>C (LHCGR)	XP_005264366.1:n.-14G>C
XM_017004089.1:c.672G>C (LHCGR)	XP_016859578.1:p.Arg224Ser
XM_017004090.1:c.291G>C (LHCGR)	XP_016859579.1:p.Arg97Ser
NM_000233.4:c.927G>C (LHCGR) MANE Select	NP_000224.2:p.Arg309Ser
NM_001198593.2:c.3441+22564C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+22564C>G