Canonical Allele Identifier: CA346745889

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs766173514
• gnomAD v3: 2-48688188-C-G
• gnomAD v4: 2-48688188-C-G
• MyVariant Identifiers: chr2:g.48915327C>G (hg19) ; chr2:g.48688188C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688188C>G , CM000664.2:g.48688188C>G	GRCh38
NC_000002.11:g.48915327C>G , CM000664.1:g.48915327C>G	GRCh37
NC_000002.10:g.48768831C>G	NCBI36
NG_008193.1:g.72554G>C
NG_033050.1:g.163264C>G
NG_008193.2:g.72554G>C
NG_033050.2:g.163264C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1609G>C (LHCGR) MANE Select	ENSP00000294954.6:p.Val537Leu
ENST00000294954.11:c.1609G>C (LHCGR)	ENSP00000294954.6:p.Val537Leu
ENST00000401907.5:c.948-49G>C (LHCGR)	ENSP00000385406.1:n.948-49G>C
ENST00000402114.6:c.3441+16508C>G (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16508C>G
ENST00000403273.5:c.*353G>C (LHCGR)	ENSP00000385847.1:n.*353G>C
ENST00000405626.5:c.1528G>C (LHCGR)	ENSP00000386033.1:p.Val510Leu
ENST00000508440.1:c.276+16508C>G (GTF2A1L)	ENSP00000421474.1:n.276+16508C>G
ENST00000602369.3:c.*220+6036G>C	ENSP00000473498.1:n.*220+6036G>C
NM_000233.3:c.1609G>C (LHCGR)	NP_000224.2:p.Val537Leu
NM_001198593.1:c.3441+16508C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16508C>G
XM_005264309.2:c.652G>C (LHCGR)	XP_005264366.1:p.Val218Leu
XM_006712015.2:c.679G>C (LHCGR)	XP_006712078.1:p.Val227Leu
XM_011532828.1:c.1534G>C (LHCGR)	XP_011531130.1:p.Val512Leu
XM_011532829.1:c.1348G>C (LHCGR)	XP_011531131.1:p.Val450Leu
XM_011532830.1:c.1267G>C (LHCGR)	XP_011531132.1:p.Val423Leu
XM_011532831.1:c.973G>C (LHCGR)	XP_011531133.1:p.Val325Leu
XM_011532832.1:c.679G>C (LHCGR)	XP_011531134.1:p.Val227Leu
XM_011532833.1:c.679G>C (LHCGR)	XP_011531135.1:p.Val227Leu
XM_011532834.1:c.652G>C (LHCGR)	XP_011531136.1:p.Val218Leu
XM_005264309.3:c.652G>C (LHCGR)	XP_005264366.1:p.Val218Leu
XM_006712015.3:c.679G>C (LHCGR)	XP_006712078.1:p.Val227Leu
XM_011532834.2:c.652G>C (LHCGR)	XP_011531136.1:p.Val218Leu
XM_017004089.1:c.1354G>C (LHCGR)	XP_016859578.1:p.Val452Leu
XM_017004090.1:c.973G>C (LHCGR)	XP_016859579.1:p.Val325Leu
NM_000233.4:c.1609G>C (LHCGR) MANE Select	NP_000224.2:p.Val537Leu
NM_001198593.2:c.3441+16508C>G (STON1-GTF2A1L)	NP_001185522.1:n.3441+16508C>G