Canonical Allele Identifier: CA346767109

Gene: FSHR

Linked Data

• gnomAD v4: 2-48963136-A-C
• MyVariant Identifiers: chr2:g.49190275A>C (hg19) ; chr2:g.48963136A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963136A>C , CM000664.2:g.48963136A>C	GRCh38
NC_000002.11:g.49190275A>C , CM000664.1:g.49190275A>C	GRCh37
NC_000002.10:g.49043779A>C	NCBI36
NG_008146.1:g.196356T>G , LRG_536:g.196356T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1685T>G MANE Select	ENSP00000384708.2:p.Val562Gly
ENST00000304421.8:c.1607T>G	ENSP00000306780.4:p.Val536Gly
ENST00000406846.6:c.1685T>G	ENSP00000384708.2:p.Val562Gly
NM_000145.3:c.1685T>G , LRG_536t1:c.1685T>G	NP_000136.2:p.Val562Gly
NM_181446.2:c.1607T>G	NP_852111.2:p.Val536Gly
XM_011532733.1:c.1787T>G	XP_011531035.1:p.Val596Gly
XM_011532734.1:c.1454T>G	XP_011531036.1:p.Val485Gly
XM_011532735.1:c.893T>G	XP_011531037.1:p.Val298Gly
XM_011532736.1:c.893T>G	XP_011531038.1:p.Val298Gly
XM_011532737.1:c.956+5562T>G	XP_011531039.1:n.956+5562T>G
XM_011532738.1:c.956+5562T>G	XP_011531040.1:n.956+5562T>G
XM_011532739.1:c.956+5562T>G	XP_011531041.1:n.956+5562T>G
XM_011532733.2:c.1787T>G	XP_011531035.1:p.Val596Gly
XM_011532734.2:c.1454T>G	XP_011531036.1:p.Val485Gly
XM_011532735.2:c.893T>G	XP_011531037.1:p.Val298Gly
XM_011532736.2:c.893T>G	XP_011531038.1:p.Val298Gly
NM_000145.4:c.1685T>G MANE Select	NP_000136.2:p.Val562Gly
NM_181446.3:c.1607T>G	NP_852111.2:p.Val536Gly