Canonical Allele Identifier: CA346766892

Gene: FSHR

Linked Data

• MyVariant Identifiers: chr2:g.49190173G>C (hg19) ; chr2:g.48963034G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963034G>C , CM000664.2:g.48963034G>C	GRCh38
NC_000002.11:g.49190173G>C , CM000664.1:g.49190173G>C	GRCh37
NC_000002.10:g.49043677G>C	NCBI36
NG_008146.1:g.196458C>G , LRG_536:g.196458C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1787C>G MANE Select	ENSP00000384708.2:p.Ser596Cys
ENST00000304421.8:c.1709C>G	ENSP00000306780.4:p.Ser570Cys
ENST00000406846.6:c.1787C>G	ENSP00000384708.2:p.Ser596Cys
NM_000145.3:c.1787C>G , LRG_536t1:c.1787C>G	NP_000136.2:p.Ser596Cys
NM_181446.2:c.1709C>G	NP_852111.2:p.Ser570Cys
XM_011532733.1:c.1889C>G	XP_011531035.1:p.Ser630Cys
XM_011532734.1:c.1556C>G	XP_011531036.1:p.Ser519Cys
XM_011532735.1:c.995C>G	XP_011531037.1:p.Ser332Cys
XM_011532736.1:c.995C>G	XP_011531038.1:p.Ser332Cys
XM_011532737.1:c.956+5664C>G	XP_011531039.1:n.956+5664C>G
XM_011532738.1:c.956+5664C>G	XP_011531040.1:n.956+5664C>G
XM_011532739.1:c.956+5664C>G	XP_011531041.1:n.956+5664C>G
XM_011532733.2:c.1889C>G	XP_011531035.1:p.Ser630Cys
XM_011532734.2:c.1556C>G	XP_011531036.1:p.Ser519Cys
XM_011532735.2:c.995C>G	XP_011531037.1:p.Ser332Cys
XM_011532736.2:c.995C>G	XP_011531038.1:p.Ser332Cys
NM_000145.4:c.1787C>G MANE Select	NP_000136.2:p.Ser596Cys
NM_181446.3:c.1709C>G	NP_852111.2:p.Ser570Cys