Canonical Allele Identifier: CA346817729

Gene: FSHR

Linked Data

• MyVariant Identifiers: chr2:g.49381485G>C (hg19) ; chr2:g.49154346G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.49154346G>C , CM000664.2:g.49154346G>C	GRCh38
NC_000002.11:g.49381485G>C , CM000664.1:g.49381485G>C	GRCh37
NC_000002.10:g.49234989G>C	NCBI36
NG_008146.1:g.5146C>G , LRG_536:g.5146C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.72C>G MANE Select	ENSP00000384708.2:p.His24Gln
ENST00000304421.8:c.72C>G	ENSP00000306780.4:p.His24Gln
ENST00000406846.6:c.72C>G	ENSP00000384708.2:p.His24Gln
ENST00000419927.1:c.72C>G	ENSP00000405775.1:p.His24Gln
ENST00000454032.5:c.72C>G	ENSP00000415504.1:p.His24Gln
NM_000145.3:c.72C>G , LRG_536t1:c.72C>G	NP_000136.2:p.His24Gln
NM_181446.2:c.72C>G	NP_852111.2:p.His24Gln
XM_011532733.1:c.72C>G	XP_011531035.1:p.His24Gln
XM_011532734.1:c.-513C>G	XP_011531036.1:n.-513C>G
XM_011532737.1:c.72C>G	XP_011531039.1:p.His24Gln
XM_011532738.1:c.72C>G	XP_011531040.1:p.His24Gln
XM_011532739.1:c.72C>G	XP_011531041.1:p.His24Gln
XM_011532740.1:c.72C>G	XP_011531042.1:p.His24Gln
XM_011532733.2:c.72C>G	XP_011531035.1:p.His24Gln
XM_011532734.2:c.-513C>G	XP_011531036.1:n.-513C>G
NM_000145.4:c.72C>G MANE Select	NP_000136.2:p.His24Gln
NM_181446.3:c.72C>G	NP_852111.2:p.His24Gln