Canonical Allele Identifier: CA346766870

Gene: FSHR

Linked Data

• MyVariant Identifiers: chr2:g.49190161G>T (hg19) ; chr2:g.48963022G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963022G>T , CM000664.2:g.48963022G>T	GRCh38
NC_000002.11:g.49190161G>T , CM000664.1:g.49190161G>T	GRCh37
NC_000002.10:g.49043665G>T	NCBI36
NG_008146.1:g.196470C>A , LRG_536:g.196470C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1799C>A MANE Select	ENSP00000384708.2:p.Pro600His
ENST00000304421.8:c.1721C>A	ENSP00000306780.4:p.Pro574His
ENST00000406846.6:c.1799C>A	ENSP00000384708.2:p.Pro600His
NM_000145.3:c.1799C>A , LRG_536t1:c.1799C>A	NP_000136.2:p.Pro600His
NM_181446.2:c.1721C>A	NP_852111.2:p.Pro574His
XM_011532733.1:c.1901C>A	XP_011531035.1:p.Pro634His
XM_011532734.1:c.1568C>A	XP_011531036.1:p.Pro523His
XM_011532735.1:c.1007C>A	XP_011531037.1:p.Pro336His
XM_011532736.1:c.1007C>A	XP_011531038.1:p.Pro336His
XM_011532737.1:c.956+5676C>A	XP_011531039.1:n.956+5676C>A
XM_011532738.1:c.956+5676C>A	XP_011531040.1:n.956+5676C>A
XM_011532739.1:c.956+5676C>A	XP_011531041.1:n.956+5676C>A
XM_011532733.2:c.1901C>A	XP_011531035.1:p.Pro634His
XM_011532734.2:c.1568C>A	XP_011531036.1:p.Pro523His
XM_011532735.2:c.1007C>A	XP_011531037.1:p.Pro336His
XM_011532736.2:c.1007C>A	XP_011531038.1:p.Pro336His
NM_000145.4:c.1799C>A MANE Select	NP_000136.2:p.Pro600His
NM_181446.3:c.1721C>A	NP_852111.2:p.Pro574His