Canonical Allele Identifier: CA1653484

Gene: LHCGR STON1-GTF2A1L

Linked Data

• dbSNP Id: rs760839238
• ExAC: 2:48982669 T / A
• gnomAD v2: 2-48982669-T-A
• gnomAD v3: 2-48755530-T-A
• gnomAD v4: 2-48755530-T-A
• MyVariant Identifiers: chr2:g.48982669T>A (hg19) ; chr2:g.48755530T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755530T>A , CM000664.2:g.48755530T>A	GRCh38
NC_000002.11:g.48982669T>A , CM000664.1:g.48982669T>A	GRCh37
NC_000002.10:g.48836173T>A	NCBI36
NG_008193.1:g.5212A>T
NG_033050.1:g.230606T>A
NG_008193.2:g.5212A>T
NG_033050.2:g.230606T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.142A>T (LHCGR) MANE Select	ENSP00000294954.6:p.Thr48Ser
ENST00000294954.11:c.142A>T (LHCGR)	ENSP00000294954.6:p.Thr48Ser
ENST00000401907.5:c.142A>T (LHCGR)	ENSP00000385406.1:p.Thr48Ser
ENST00000402114.6:c.3442-20750T>A (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20750T>A
ENST00000403273.5:c.142A>T (LHCGR)	ENSP00000385847.1:p.Thr48Ser
ENST00000405626.5:c.142A>T (LHCGR)	ENSP00000386033.1:p.Thr48Ser
ENST00000428232.2:c.40A>T (LHCGR)	ENSP00000403748.1:p.Thr14Ser
ENST00000602369.3:c.142A>T	ENSP00000473498.1:p.Thr48Ser
NM_000233.3:c.142A>T (LHCGR)	NP_000224.2:p.Thr48Ser
NM_001198593.1:c.3442-20750T>A (STON1-GTF2A1L)	NP_001185522.1:n.3442-20750T>A
XM_011532828.1:c.142A>T (LHCGR)	XP_011531130.1:p.Thr48Ser
XM_011532829.1:c.142A>T (LHCGR)	XP_011531131.1:p.Thr48Ser
XM_011532830.1:c.142A>T (LHCGR)	XP_011531132.1:p.Thr48Ser
NM_000233.4:c.142A>T (LHCGR) MANE Select	NP_000224.2:p.Thr48Ser
NM_001198593.2:c.3442-20750T>A (STON1-GTF2A1L)	NP_001185522.1:n.3442-20750T>A