Canonical Allele Identifier: CA346750465

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1348065650
• gnomAD v2: 2-48915972-C-A
• gnomAD v4: 2-48688833-C-A
• MyVariant Identifiers: chr2:g.48915972C>A (hg19) ; chr2:g.48688833C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688833C>A , CM000664.2:g.48688833C>A	GRCh38
NC_000002.11:g.48915972C>A , CM000664.1:g.48915972C>A	GRCh37
NC_000002.10:g.48769476C>A	NCBI36
NG_008193.1:g.71909G>T
NG_033050.1:g.163909C>A
NG_008193.2:g.71909G>T
NG_033050.2:g.163909C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.964G>T (LHCGR) MANE Select	ENSP00000294954.6:p.Ala322Ser
ENST00000294954.11:c.964G>T (LHCGR)	ENSP00000294954.6:p.Ala322Ser
ENST00000401907.5:c.948-694G>T (LHCGR)	ENSP00000385406.1:n.948-694G>T
ENST00000402114.6:c.3441+17153C>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17153C>A
ENST00000403273.5:c.948-250G>T (LHCGR)	ENSP00000385847.1:n.948-250G>T
ENST00000405626.5:c.883G>T (LHCGR)	ENSP00000386033.1:p.Ala295Ser
ENST00000508440.1:c.276+17153C>A (GTF2A1L)	ENSP00000421474.1:n.276+17153C>A
ENST00000602369.3:c.*220+5391G>T	ENSP00000473498.1:n.*220+5391G>T
NM_000233.3:c.964G>T (LHCGR)	NP_000224.2:p.Ala322Ser
NM_001198593.1:c.3441+17153C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+17153C>A
XM_005264309.2:c.7G>T (LHCGR)	XP_005264366.1:p.Ala3Ser
XM_006712015.2:c.34G>T (LHCGR)	XP_006712078.1:p.Ala12Ser
XM_011532828.1:c.889G>T (LHCGR)	XP_011531130.1:p.Ala297Ser
XM_011532829.1:c.703G>T (LHCGR)	XP_011531131.1:p.Ala235Ser
XM_011532830.1:c.622G>T (LHCGR)	XP_011531132.1:p.Ala208Ser
XM_011532831.1:c.328G>T (LHCGR)	XP_011531133.1:p.Ala110Ser
XM_011532832.1:c.34G>T (LHCGR)	XP_011531134.1:p.Ala12Ser
XM_011532833.1:c.34G>T (LHCGR)	XP_011531135.1:p.Ala12Ser
XM_011532834.1:c.7G>T (LHCGR)	XP_011531136.1:p.Ala3Ser
XM_005264309.3:c.7G>T (LHCGR)	XP_005264366.1:p.Ala3Ser
XM_006712015.3:c.34G>T (LHCGR)	XP_006712078.1:p.Ala12Ser
XM_011532834.2:c.7G>T (LHCGR)	XP_011531136.1:p.Ala3Ser
XM_017004089.1:c.709G>T (LHCGR)	XP_016859578.1:p.Ala237Ser
XM_017004090.1:c.328G>T (LHCGR)	XP_016859579.1:p.Ala110Ser
NM_000233.4:c.964G>T (LHCGR) MANE Select	NP_000224.2:p.Ala322Ser
NM_001198593.2:c.3441+17153C>A (STON1-GTF2A1L)	NP_001185522.1:n.3441+17153C>A