Canonical Allele Identifier: CA426124648

Gene: FSHR

Linked Data

• MyVariant Identifiers: chr2:g.49190163C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963024C>A , CM000664.2:g.48963024C>A	GRCh38
NC_000002.11:g.49190163C>A , CM000664.1:g.49190163C>A	GRCh37
NC_000002.10:g.49043667C>A	NCBI36
NG_008146.1:g.196468G>T , LRG_536:g.196468G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000406846.7:c.1797G>T MANE Select	ENSP00000384708.2:p.Val599=
ENST00000304421.8:c.1719G>T	ENSP00000306780.4:p.Val573=
ENST00000406846.6:c.1797G>T	ENSP00000384708.2:p.Val599=
NM_000145.3:c.1797G>T , LRG_536t1:c.1797G>T	NP_000136.2:p.Val599=
NM_181446.2:c.1719G>T	NP_852111.2:p.Val573=
XM_011532733.1:c.1899G>T	XP_011531035.1:p.Val633=
XM_011532734.1:c.1566G>T	XP_011531036.1:p.Val522=
XM_011532735.1:c.1005G>T	XP_011531037.1:p.Val335=
XM_011532736.1:c.1005G>T	XP_011531038.1:p.Val335=
XM_011532737.1:c.956+5674G>T	XP_011531039.1:n.956+5674G>T
XM_011532738.1:c.956+5674G>T	XP_011531040.1:n.956+5674G>T
XM_011532739.1:c.956+5674G>T	XP_011531041.1:n.956+5674G>T
XM_011532733.2:c.1899G>T	XP_011531035.1:p.Val633=
XM_011532734.2:c.1566G>T	XP_011531036.1:p.Val522=
XM_011532735.2:c.1005G>T	XP_011531037.1:p.Val335=
XM_011532736.2:c.1005G>T	XP_011531038.1:p.Val335=
NM_000145.4:c.1797G>T MANE Select	NP_000136.2:p.Val599=
NM_181446.3:c.1719G>T	NP_852111.2:p.Val573=