Canonical Allele Identifier: CA426124656

Gene: FSHR

Linked Data

• MyVariant Identifiers: chr2:g.49190172G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963033G>T , CM000664.2:g.48963033G>T	GRCh38
NC_000002.11:g.49190172G>T , CM000664.1:g.49190172G>T	GRCh37
NC_000002.10:g.49043676G>T	NCBI36
NG_008146.1:g.196459C>A , LRG_536:g.196459C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1788C>A MANE Select	ENSP00000384708.2:p.Ser596=
ENST00000304421.8:c.1710C>A	ENSP00000306780.4:p.Ser570=
ENST00000406846.6:c.1788C>A	ENSP00000384708.2:p.Ser596=
NM_000145.3:c.1788C>A , LRG_536t1:c.1788C>A	NP_000136.2:p.Ser596=
NM_181446.2:c.1710C>A	NP_852111.2:p.Ser570=
XM_011532733.1:c.1890C>A	XP_011531035.1:p.Ser630=
XM_011532734.1:c.1557C>A	XP_011531036.1:p.Ser519=
XM_011532735.1:c.996C>A	XP_011531037.1:p.Ser332=
XM_011532736.1:c.996C>A	XP_011531038.1:p.Ser332=
XM_011532737.1:c.956+5665C>A	XP_011531039.1:n.956+5665C>A
XM_011532738.1:c.956+5665C>A	XP_011531040.1:n.956+5665C>A
XM_011532739.1:c.956+5665C>A	XP_011531041.1:n.956+5665C>A
XM_011532733.2:c.1890C>A	XP_011531035.1:p.Ser630=
XM_011532734.2:c.1557C>A	XP_011531036.1:p.Ser519=
XM_011532735.2:c.996C>A	XP_011531037.1:p.Ser332=
XM_011532736.2:c.996C>A	XP_011531038.1:p.Ser332=
NM_000145.4:c.1788C>A MANE Select	NP_000136.2:p.Ser596=
NM_181446.3:c.1710C>A	NP_852111.2:p.Ser570=