Canonical Allele Identifier: CA426124653

Gene: FSHR

Linked Data

• MyVariant Identifiers: chr2:g.49190169G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963030G>C , CM000664.2:g.48963030G>C	GRCh38
NC_000002.11:g.49190169G>C , CM000664.1:g.49190169G>C	GRCh37
NC_000002.10:g.49043673G>C	NCBI36
NG_008146.1:g.196462C>G , LRG_536:g.196462C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1791C>G MANE Select	ENSP00000384708.2:p.Leu597=
ENST00000304421.8:c.1713C>G	ENSP00000306780.4:p.Leu571=
ENST00000406846.6:c.1791C>G	ENSP00000384708.2:p.Leu597=
NM_000145.3:c.1791C>G , LRG_536t1:c.1791C>G	NP_000136.2:p.Leu597=
NM_181446.2:c.1713C>G	NP_852111.2:p.Leu571=
XM_011532733.1:c.1893C>G	XP_011531035.1:p.Leu631=
XM_011532734.1:c.1560C>G	XP_011531036.1:p.Leu520=
XM_011532735.1:c.999C>G	XP_011531037.1:p.Leu333=
XM_011532736.1:c.999C>G	XP_011531038.1:p.Leu333=
XM_011532737.1:c.956+5668C>G	XP_011531039.1:n.956+5668C>G
XM_011532738.1:c.956+5668C>G	XP_011531040.1:n.956+5668C>G
XM_011532739.1:c.956+5668C>G	XP_011531041.1:n.956+5668C>G
XM_011532733.2:c.1893C>G	XP_011531035.1:p.Leu631=
XM_011532734.2:c.1560C>G	XP_011531036.1:p.Leu520=
XM_011532735.2:c.999C>G	XP_011531037.1:p.Leu333=
XM_011532736.2:c.999C>G	XP_011531038.1:p.Leu333=
NM_000145.4:c.1791C>G MANE Select	NP_000136.2:p.Leu597=
NM_181446.3:c.1713C>G	NP_852111.2:p.Leu571=