Canonical Allele Identifier: CA346766876

Gene: FSHR

Linked Data

• MyVariant Identifiers: chr2:g.49190165C>A (hg19) ; chr2:g.48963026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963026C>A , CM000664.2:g.48963026C>A	GRCh38
NC_000002.11:g.49190165C>A , CM000664.1:g.49190165C>A	GRCh37
NC_000002.10:g.49043669C>A	NCBI36
NG_008146.1:g.196466G>T , LRG_536:g.196466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1795G>T MANE Select	ENSP00000384708.2:p.Val599Leu
ENST00000304421.8:c.1717G>T	ENSP00000306780.4:p.Val573Leu
ENST00000406846.6:c.1795G>T	ENSP00000384708.2:p.Val599Leu
NM_000145.3:c.1795G>T , LRG_536t1:c.1795G>T	NP_000136.2:p.Val599Leu
NM_181446.2:c.1717G>T	NP_852111.2:p.Val573Leu
XM_011532733.1:c.1897G>T	XP_011531035.1:p.Val633Leu
XM_011532734.1:c.1564G>T	XP_011531036.1:p.Val522Leu
XM_011532735.1:c.1003G>T	XP_011531037.1:p.Val335Leu
XM_011532736.1:c.1003G>T	XP_011531038.1:p.Val335Leu
XM_011532737.1:c.956+5672G>T	XP_011531039.1:n.956+5672G>T
XM_011532738.1:c.956+5672G>T	XP_011531040.1:n.956+5672G>T
XM_011532739.1:c.956+5672G>T	XP_011531041.1:n.956+5672G>T
XM_011532733.2:c.1897G>T	XP_011531035.1:p.Val633Leu
XM_011532734.2:c.1564G>T	XP_011531036.1:p.Val522Leu
XM_011532735.2:c.1003G>T	XP_011531037.1:p.Val335Leu
XM_011532736.2:c.1003G>T	XP_011531038.1:p.Val335Leu
NM_000145.4:c.1795G>T MANE Select	NP_000136.2:p.Val599Leu
NM_181446.3:c.1717G>T	NP_852111.2:p.Val573Leu