Canonical Allele Identifier: CA346817741

Gene: FSHR

Linked Data

• COSMIC: COSM5785177
• MyVariant Identifiers: chr2:g.49381489C>T (hg19) ; chr2:g.49154350C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.49154350C>T , CM000664.2:g.49154350C>T	GRCh38
NC_000002.11:g.49381489C>T , CM000664.1:g.49381489C>T	GRCh37
NC_000002.10:g.49234993C>T	NCBI36
NG_008146.1:g.5142G>A , LRG_536:g.5142G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000406846.7:c.68G>A MANE Select	ENSP00000384708.2:p.Cys23Tyr
ENST00000304421.8:c.68G>A	ENSP00000306780.4:p.Cys23Tyr
ENST00000406846.6:c.68G>A	ENSP00000384708.2:p.Cys23Tyr
ENST00000419927.1:c.68G>A	ENSP00000405775.1:p.Cys23Tyr
ENST00000454032.5:c.68G>A	ENSP00000415504.1:p.Cys23Tyr
NM_000145.3:c.68G>A , LRG_536t1:c.68G>A	NP_000136.2:p.Cys23Tyr
NM_181446.2:c.68G>A	NP_852111.2:p.Cys23Tyr
XM_011532733.1:c.68G>A	XP_011531035.1:p.Cys23Tyr
XM_011532734.1:c.-517G>A	XP_011531036.1:n.-517G>A
XM_011532737.1:c.68G>A	XP_011531039.1:p.Cys23Tyr
XM_011532738.1:c.68G>A	XP_011531040.1:p.Cys23Tyr
XM_011532739.1:c.68G>A	XP_011531041.1:p.Cys23Tyr
XM_011532740.1:c.68G>A	XP_011531042.1:p.Cys23Tyr
XM_011532733.2:c.68G>A	XP_011531035.1:p.Cys23Tyr
XM_011532734.2:c.-517G>A	XP_011531036.1:n.-517G>A
NM_000145.4:c.68G>A MANE Select	NP_000136.2:p.Cys23Tyr
NM_181446.3:c.68G>A	NP_852111.2:p.Cys23Tyr