Canonical Allele Identifier: CA346766875

Gene: FSHR

Linked Data

• MyVariant Identifiers: chr2:g.49190164A>T (hg19) ; chr2:g.48963025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963025A>T , CM000664.2:g.48963025A>T	GRCh38
NC_000002.11:g.49190164A>T , CM000664.1:g.49190164A>T	GRCh37
NC_000002.10:g.49043668A>T	NCBI36
NG_008146.1:g.196467T>A , LRG_536:g.196467T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1796T>A MANE Select	ENSP00000384708.2:p.Val599Glu
ENST00000304421.8:c.1718T>A	ENSP00000306780.4:p.Val573Glu
ENST00000406846.6:c.1796T>A	ENSP00000384708.2:p.Val599Glu
NM_000145.3:c.1796T>A , LRG_536t1:c.1796T>A	NP_000136.2:p.Val599Glu
NM_181446.2:c.1718T>A	NP_852111.2:p.Val573Glu
XM_011532733.1:c.1898T>A	XP_011531035.1:p.Val633Glu
XM_011532734.1:c.1565T>A	XP_011531036.1:p.Val522Glu
XM_011532735.1:c.1004T>A	XP_011531037.1:p.Val335Glu
XM_011532736.1:c.1004T>A	XP_011531038.1:p.Val335Glu
XM_011532737.1:c.956+5673T>A	XP_011531039.1:n.956+5673T>A
XM_011532738.1:c.956+5673T>A	XP_011531040.1:n.956+5673T>A
XM_011532739.1:c.956+5673T>A	XP_011531041.1:n.956+5673T>A
XM_011532733.2:c.1898T>A	XP_011531035.1:p.Val633Glu
XM_011532734.2:c.1565T>A	XP_011531036.1:p.Val522Glu
XM_011532735.2:c.1004T>A	XP_011531037.1:p.Val335Glu
XM_011532736.2:c.1004T>A	XP_011531038.1:p.Val335Glu
NM_000145.4:c.1796T>A MANE Select	NP_000136.2:p.Val599Glu
NM_181446.3:c.1718T>A	NP_852111.2:p.Val573Glu