Canonical Allele Identifier: CA1654099

Gene: FSHR

Linked Data

• ClinVar Variation Id: 336493
• ClinVar RCV Id: RCV000336327 ; RCV000390305
• dbSNP Id: rs377397067
• ExAC: 2:49295363 C / T
• gnomAD v2: 2-49295363-C-T
• gnomAD v3: 2-49068224-C-T
• gnomAD v4: 2-49068224-C-T
• MyVariant Identifiers: chr2:g.49295363C>T (hg19) ; chr2:g.49068224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.49068224C>T , CM000664.2:g.49068224C>T	GRCh38
NC_000002.11:g.49295363C>T , CM000664.1:g.49295363C>T	GRCh37
NC_000002.10:g.49148867C>T	NCBI36
NG_008146.1:g.91268G>A , LRG_536:g.91268G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000406846.7:c.219G>A MANE Select	ENSP00000384708.2:p.Glu73=
ENST00000304421.8:c.219G>A	ENSP00000306780.4:p.Glu73=
ENST00000406846.6:c.219G>A	ENSP00000384708.2:p.Glu73=
ENST00000419927.1:c.219G>A	ENSP00000405775.1:p.Glu73=
ENST00000454032.5:c.219G>A	ENSP00000415504.1:p.Glu73=
NM_000145.3:c.219G>A , LRG_536t1:c.219G>A	NP_000136.2:p.Glu73=
NM_181446.2:c.219G>A	NP_852111.2:p.Glu73=
XM_011532733.1:c.219G>A	XP_011531035.1:p.Glu73=
XM_011532734.1:c.-366G>A	XP_011531036.1:n.-366G>A
XM_011532737.1:c.219G>A	XP_011531039.1:p.Glu73=
XM_011532738.1:c.219G>A	XP_011531040.1:p.Glu73=
XM_011532739.1:c.219G>A	XP_011531041.1:p.Glu73=
XM_011532740.1:c.219G>A	XP_011531042.1:p.Glu73=
XM_011532733.2:c.219G>A	XP_011531035.1:p.Glu73=
XM_011532734.2:c.-366G>A	XP_011531036.1:n.-366G>A
NM_000145.4:c.219G>A MANE Select	NP_000136.2:p.Glu73=
NM_181446.3:c.219G>A	NP_852111.2:p.Glu73=