Canonical Allele Identifier: CA346766879

Gene: FSHR

Linked Data

• gnomAD v4: 2-48963027-C-G
• MyVariant Identifiers: chr2:g.49190166C>G (hg19) ; chr2:g.48963027C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48963027C>G , CM000664.2:g.48963027C>G	GRCh38
NC_000002.11:g.49190166C>G , CM000664.1:g.49190166C>G	GRCh37
NC_000002.10:g.49043670C>G	NCBI36
NG_008146.1:g.196465G>C , LRG_536:g.196465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406846.7:c.1794G>C MANE Select	ENSP00000384708.2:p.Lys598Asn
ENST00000304421.8:c.1716G>C	ENSP00000306780.4:p.Lys572Asn
ENST00000406846.6:c.1794G>C	ENSP00000384708.2:p.Lys598Asn
NM_000145.3:c.1794G>C , LRG_536t1:c.1794G>C	NP_000136.2:p.Lys598Asn
NM_181446.2:c.1716G>C	NP_852111.2:p.Lys572Asn
XM_011532733.1:c.1896G>C	XP_011531035.1:p.Lys632Asn
XM_011532734.1:c.1563G>C	XP_011531036.1:p.Lys521Asn
XM_011532735.1:c.1002G>C	XP_011531037.1:p.Lys334Asn
XM_011532736.1:c.1002G>C	XP_011531038.1:p.Lys334Asn
XM_011532737.1:c.956+5671G>C	XP_011531039.1:n.956+5671G>C
XM_011532738.1:c.956+5671G>C	XP_011531040.1:n.956+5671G>C
XM_011532739.1:c.956+5671G>C	XP_011531041.1:n.956+5671G>C
XM_011532733.2:c.1896G>C	XP_011531035.1:p.Lys632Asn
XM_011532734.2:c.1563G>C	XP_011531036.1:p.Lys521Asn
XM_011532735.2:c.1002G>C	XP_011531037.1:p.Lys334Asn
XM_011532736.2:c.1002G>C	XP_011531038.1:p.Lys334Asn
NM_000145.4:c.1794G>C MANE Select	NP_000136.2:p.Lys598Asn
NM_181446.3:c.1716G>C	NP_852111.2:p.Lys572Asn