Canonical Allele Identifier: CA1653631

Gene: FSHR

Linked Data

• ClinVar Variation Id: 336481
• ClinVar RCV Id: RCV000346755 ; RCV000384946
• dbSNP Id: rs138281715
• ExAC: 2:49190384 A / G
• gnomAD v2: 2-49190384-A-G
• gnomAD v3: 2-48963245-A-G
• gnomAD v4: 2-48963245-A-G
• MyVariant Identifiers: chr2:g.49190384A>G (hg19) ; chr2:g.48963245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963245A>G , CM000664.2:g.48963245A>G	GRCh38
NC_000002.11:g.49190384A>G , CM000664.1:g.49190384A>G	GRCh37
NC_000002.10:g.49043888A>G	NCBI36
NG_008146.1:g.196247T>C , LRG_536:g.196247T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000406846.7:c.1576T>C MANE Select	ENSP00000384708.2:p.Leu526=
ENST00000304421.8:c.1498T>C	ENSP00000306780.4:p.Leu500=
ENST00000406846.6:c.1576T>C	ENSP00000384708.2:p.Leu526=
NM_000145.3:c.1576T>C , LRG_536t1:c.1576T>C	NP_000136.2:p.Leu526=
NM_181446.2:c.1498T>C	NP_852111.2:p.Leu500=
XM_011532733.1:c.1678T>C	XP_011531035.1:p.Leu560=
XM_011532734.1:c.1345T>C	XP_011531036.1:p.Leu449=
XM_011532735.1:c.784T>C	XP_011531037.1:p.Leu262=
XM_011532736.1:c.784T>C	XP_011531038.1:p.Leu262=
XM_011532737.1:c.956+5453T>C	XP_011531039.1:n.956+5453T>C
XM_011532738.1:c.956+5453T>C	XP_011531040.1:n.956+5453T>C
XM_011532739.1:c.956+5453T>C	XP_011531041.1:n.956+5453T>C
XM_011532733.2:c.1678T>C	XP_011531035.1:p.Leu560=
XM_011532734.2:c.1345T>C	XP_011531036.1:p.Leu449=
XM_011532735.2:c.784T>C	XP_011531037.1:p.Leu262=
XM_011532736.2:c.784T>C	XP_011531038.1:p.Leu262=
NM_000145.4:c.1576T>C MANE Select	NP_000136.2:p.Leu526=
NM_181446.3:c.1498T>C	NP_852111.2:p.Leu500=