Canonical Allele Identifier: CA346743482

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1482062965
• gnomAD v2: 2-48914967-A-C
• gnomAD v4: 2-48687828-A-C
• MyVariant Identifiers: chr2:g.48914967A>C (hg19) ; chr2:g.48687828A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687828A>C , CM000664.2:g.48687828A>C	GRCh38
NC_000002.11:g.48914967A>C , CM000664.1:g.48914967A>C	GRCh37
NC_000002.10:g.48768471A>C	NCBI36
NG_008193.1:g.72914T>G
NG_033050.1:g.162904A>C
NG_008193.2:g.72914T>G
NG_033050.2:g.162904A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1969T>G (LHCGR) MANE Select	ENSP00000294954.6:p.Ser657Ala
ENST00000294954.11:c.1969T>G (LHCGR)	ENSP00000294954.6:p.Ser657Ala
ENST00000401907.5:c.*281T>G (LHCGR)	ENSP00000385406.1:n.*281T>G
ENST00000402114.6:c.3441+16148A>C (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16148A>C
ENST00000403273.5:c.*713T>G (LHCGR)	ENSP00000385847.1:n.*713T>G
ENST00000405626.5:c.1888T>G (LHCGR)	ENSP00000386033.1:p.Ser630Ala
ENST00000508440.1:c.276+16148A>C (GTF2A1L)	ENSP00000421474.1:n.276+16148A>C
ENST00000602369.3:c.*220+6396T>G	ENSP00000473498.1:n.*220+6396T>G
NM_000233.3:c.1969T>G (LHCGR)	NP_000224.2:p.Ser657Ala
NM_001198593.1:c.3441+16148A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16148A>C
XM_005264309.2:c.1012T>G (LHCGR)	XP_005264366.1:p.Ser338Ala
XM_006712015.2:c.1039T>G (LHCGR)	XP_006712078.1:p.Ser347Ala
XM_011532828.1:c.1894T>G (LHCGR)	XP_011531130.1:p.Ser632Ala
XM_011532829.1:c.1708T>G (LHCGR)	XP_011531131.1:p.Ser570Ala
XM_011532830.1:c.1627T>G (LHCGR)	XP_011531132.1:p.Ser543Ala
XM_011532831.1:c.1333T>G (LHCGR)	XP_011531133.1:p.Ser445Ala
XM_011532832.1:c.1039T>G (LHCGR)	XP_011531134.1:p.Ser347Ala
XM_011532833.1:c.1039T>G (LHCGR)	XP_011531135.1:p.Ser347Ala
XM_011532834.1:c.1012T>G (LHCGR)	XP_011531136.1:p.Ser338Ala
XM_005264309.3:c.1012T>G (LHCGR)	XP_005264366.1:p.Ser338Ala
XM_006712015.3:c.1039T>G (LHCGR)	XP_006712078.1:p.Ser347Ala
XM_011532834.2:c.1012T>G (LHCGR)	XP_011531136.1:p.Ser338Ala
XM_017004089.1:c.1714T>G (LHCGR)	XP_016859578.1:p.Ser572Ala
XM_017004090.1:c.1333T>G (LHCGR)	XP_016859579.1:p.Ser445Ala
NM_000233.4:c.1969T>G (LHCGR) MANE Select	NP_000224.2:p.Ser657Ala
NM_001198593.2:c.3441+16148A>C (STON1-GTF2A1L)	NP_001185522.1:n.3441+16148A>C