Canonical Allele Identifier: CA769618550
Gene: STON1-GTF2A1L HGNC NCBI
LHCGR HGNC NCBI

Linked Data

dbSNP Id: rs1448646602
gnomAD v4: 2-48755731-C-T
MyVariant Identifiers: chr2:g.48982870C>T (hg19) chr2:g.48755731C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755731C>T , CM000664.2:g.48755731C>T GRCh38
NC_000002.11:g.48982870C>T , CM000664.1:g.48982870C>T GRCh37
NC_000002.10:g.48836374C>T NCBI36
NG_008193.1:g.5011G>A
NG_033050.1:g.230807C>T
NG_008193.2:g.5011G>A
NG_033050.2:g.230807C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20549C>T (STON1-GTF2A1L) ENSP00000385701.1:n.3442-20549C>T
NM_000233.3:c.-60G>A (LHCGR) NP_000224.2:n.-60G>A
NM_001198593.1:c.3442-20549C>T (STON1-GTF2A1L) NP_001185522.1:n.3442-20549C>T
NM_001198593.2:c.3442-20549C>T (STON1-GTF2A1L) NP_001185522.1:n.3442-20549C>T
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