Canonical Allele Identifier: CA532564890

Gene: FSHR

Linked Data

• dbSNP Id: rs1317756940
• gnomAD v2: 2-49381596-A-G
• gnomAD v3: 2-49154457-A-G
• gnomAD v4: 2-49154457-A-G
• MyVariant Identifiers: chr2:g.49381596A>G (hg19) ; chr2:g.49154457A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.49154457A>G , CM000664.2:g.49154457A>G	GRCh38
NC_000002.11:g.49381596A>G , CM000664.1:g.49381596A>G	GRCh37
NC_000002.10:g.49235100A>G	NCBI36
NG_008146.1:g.5035T>C , LRG_536:g.5035T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000406846.7:c.-40T>C MANE Select	ENSP00000384708.2:n.-40T>C
ENST00000304421.8:c.-40T>C	ENSP00000306780.4:n.-40T>C
ENST00000406846.6:c.-40T>C	ENSP00000384708.2:n.-40T>C
ENST00000419927.1:c.-40T>C	ENSP00000405775.1:n.-40T>C
NM_000145.3:c.-40T>C , LRG_536t1:c.-40T>C	NP_000136.2:n.-40T>C
NM_181446.2:c.-40T>C	NP_852111.2:n.-40T>C
XM_011532733.1:c.-40T>C	XP_011531035.1:n.-40T>C
XM_011532734.1:c.-624T>C	XP_011531036.1:n.-624T>C
XM_011532737.1:c.-40T>C	XP_011531039.1:n.-40T>C
XM_011532738.1:c.-40T>C	XP_011531040.1:n.-40T>C
XM_011532739.1:c.-40T>C	XP_011531041.1:n.-40T>C
XM_011532740.1:c.-40T>C	XP_011531042.1:n.-40T>C
XM_011532733.2:c.-40T>C	XP_011531035.1:n.-40T>C
XM_011532734.2:c.-624T>C	XP_011531036.1:n.-624T>C
NM_000145.4:c.-40T>C MANE Select	NP_000136.2:n.-40T>C
NM_181446.3:c.-40T>C	NP_852111.2:n.-40T>C