Canonical Allele Identifier: CA47326576

Gene: FSHR

Linked Data

• dbSNP Id: rs1008534502
• gnomAD v2: 2-49190161-G-A
• gnomAD v4: 2-48963022-G-A
• MyVariant Identifiers: chr2:g.49190161G>A (hg19) ; chr2:g.48963022G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1799C>T MANE Select	ENSP00000384708.2:p.Pro600Leu
ENST00000304421.8:c.1721C>T	ENSP00000306780.4:p.Pro574Leu
ENST00000406846.6:c.1799C>T	ENSP00000384708.2:p.Pro600Leu
NM_000145.3:c.1799C>T , LRG_536t1:c.1799C>T	NP_000136.2:p.Pro600Leu
NM_181446.2:c.1721C>T	NP_852111.2:p.Pro574Leu
XM_011532733.1:c.1901C>T	XP_011531035.1:p.Pro634Leu
XM_011532734.1:c.1568C>T	XP_011531036.1:p.Pro523Leu
XM_011532735.1:c.1007C>T	XP_011531037.1:p.Pro336Leu
XM_011532736.1:c.1007C>T	XP_011531038.1:p.Pro336Leu
XM_011532737.1:c.956+5676C>T	XP_011531039.1:n.956+5676C>T
XM_011532738.1:c.956+5676C>T	XP_011531040.1:n.956+5676C>T
XM_011532739.1:c.956+5676C>T	XP_011531041.1:n.956+5676C>T
XM_011532733.2:c.1901C>T	XP_011531035.1:p.Pro634Leu
XM_011532734.2:c.1568C>T	XP_011531036.1:p.Pro523Leu
XM_011532735.2:c.1007C>T	XP_011531037.1:p.Pro336Leu
XM_011532736.2:c.1007C>T	XP_011531038.1:p.Pro336Leu
NM_000145.4:c.1799C>T MANE Select	NP_000136.2:p.Pro600Leu
NM_181446.3:c.1721C>T	NP_852111.2:p.Pro574Leu