Canonical Allele Identifier: CA346817736

Gene: FSHR

Linked Data

• gnomAD v4: 2-49154348-G-T
• MyVariant Identifiers: chr2:g.49381487G>T (hg19) ; chr2:g.49154348G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.49154348G>T , CM000664.2:g.49154348G>T	GRCh38
NC_000002.11:g.49381487G>T , CM000664.1:g.49381487G>T	GRCh37
NC_000002.10:g.49234991G>T	NCBI36
NG_008146.1:g.5144C>A , LRG_536:g.5144C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.70C>A MANE Select	ENSP00000384708.2:p.His24Asn
ENST00000304421.8:c.70C>A	ENSP00000306780.4:p.His24Asn
ENST00000406846.6:c.70C>A	ENSP00000384708.2:p.His24Asn
ENST00000419927.1:c.70C>A	ENSP00000405775.1:p.His24Asn
ENST00000454032.5:c.70C>A	ENSP00000415504.1:p.His24Asn
NM_000145.3:c.70C>A , LRG_536t1:c.70C>A	NP_000136.2:p.His24Asn
NM_181446.2:c.70C>A	NP_852111.2:p.His24Asn
XM_011532733.1:c.70C>A	XP_011531035.1:p.His24Asn
XM_011532734.1:c.-515C>A	XP_011531036.1:n.-515C>A
XM_011532737.1:c.70C>A	XP_011531039.1:p.His24Asn
XM_011532738.1:c.70C>A	XP_011531040.1:p.His24Asn
XM_011532739.1:c.70C>A	XP_011531041.1:p.His24Asn
XM_011532740.1:c.70C>A	XP_011531042.1:p.His24Asn
XM_011532733.2:c.70C>A	XP_011531035.1:p.His24Asn
XM_011532734.2:c.-515C>A	XP_011531036.1:n.-515C>A
NM_000145.4:c.70C>A MANE Select	NP_000136.2:p.His24Asn
NM_181446.3:c.70C>A	NP_852111.2:p.His24Asn