Canonical Allele Identifier: CA346767086

Gene: FSHR

Linked Data

• MyVariant Identifiers: chr2:g.49190263C>A (hg19) ; chr2:g.48963124C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963124C>A , CM000664.2:g.48963124C>A	GRCh38
NC_000002.11:g.49190263C>A , CM000664.1:g.49190263C>A	GRCh37
NC_000002.10:g.49043767C>A	NCBI36
NG_008146.1:g.196368G>T , LRG_536:g.196368G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1697G>T MANE Select	ENSP00000384708.2:p.Ser566Ile
ENST00000304421.8:c.1619G>T	ENSP00000306780.4:p.Ser540Ile
ENST00000406846.6:c.1697G>T	ENSP00000384708.2:p.Ser566Ile
NM_000145.3:c.1697G>T , LRG_536t1:c.1697G>T	NP_000136.2:p.Ser566Ile
NM_181446.2:c.1619G>T	NP_852111.2:p.Ser540Ile
XM_011532733.1:c.1799G>T	XP_011531035.1:p.Ser600Ile
XM_011532734.1:c.1466G>T	XP_011531036.1:p.Ser489Ile
XM_011532735.1:c.905G>T	XP_011531037.1:p.Ser302Ile
XM_011532736.1:c.905G>T	XP_011531038.1:p.Ser302Ile
XM_011532737.1:c.956+5574G>T	XP_011531039.1:n.956+5574G>T
XM_011532738.1:c.956+5574G>T	XP_011531040.1:n.956+5574G>T
XM_011532739.1:c.956+5574G>T	XP_011531041.1:n.956+5574G>T
XM_011532733.2:c.1799G>T	XP_011531035.1:p.Ser600Ile
XM_011532734.2:c.1466G>T	XP_011531036.1:p.Ser489Ile
XM_011532735.2:c.905G>T	XP_011531037.1:p.Ser302Ile
XM_011532736.2:c.905G>T	XP_011531038.1:p.Ser302Ile
NM_000145.4:c.1697G>T MANE Select	NP_000136.2:p.Ser566Ile
NM_181446.3:c.1619G>T	NP_852111.2:p.Ser540Ile