Canonical Allele Identifier: CA769618537
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs1311246585
gnomAD v3: 2-48755728-G-C
gnomAD v4: 2-48755728-G-C
MyVariant Identifiers: chr2:g.48982867G>C (hg19) chr2:g.48755728G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755728G>C , CM000664.2:g.48755728G>C GRCh38
NC_000002.11:g.48982867G>C , CM000664.1:g.48982867G>C GRCh37
NC_000002.10:g.48836371G>C NCBI36
NG_008193.1:g.5014C>G
NG_033050.1:g.230804G>C
NG_008193.2:g.5014C>G
NG_033050.2:g.230804G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401907.5:c.-57C>G (LHCGR) ENSP00000385406.1:n.-57C>G
ENST00000402114.6:c.3442-20552G>C (STON1-GTF2A1L) ENSP00000385701.1:n.3442-20552G>C
ENST00000403273.5:c.-57C>G (LHCGR) ENSP00000385847.1:n.-57C>G
NM_000233.3:c.-57C>G (LHCGR) NP_000224.2:n.-57C>G
NM_001198593.1:c.3442-20552G>C (STON1-GTF2A1L) NP_001185522.1:n.3442-20552G>C
NM_001198593.2:c.3442-20552G>C (STON1-GTF2A1L) NP_001185522.1:n.3442-20552G>C
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