Canonical Allele Identifier: CA3231813
Community Standard Title: NM_002185.5(IL7R):c.2T>G (p.Met1Arg)
Gene: IL7R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35856979T>G , CM000667.2:g.35856979T>G GRCh38
NC_000005.9:g.35857081T>G , CM000667.1:g.35857081T>G GRCh37
NC_000005.8:g.35892838T>G NCBI36
NG_009567.1:g.5091T>G , LRG_74:g.5091T>G

Transcript Alleles

HGVS Amino-acid Change
NM_002185.5:c.2T>G MANE Select NP_002176.2:p.Met1Arg
ENST00000303115.8:c.2T>G MANE Select ENSP00000306157.3:p.Met1Arg
NM_002185.3:c.2T>G NP_002176.2:p.Met1Arg
NM_002185.4:c.2T>G NP_002176.2:p.Met1Arg
NR_120485.1:n.105T>G
NR_120485.2:n.131T>G
NR_120485.3:n.89T>G
ENST00000303115.7:c.2T>G ENSP00000306157.3:p.Met1Arg
ENST00000506850.5:c.2T>G ENSP00000421207.1:p.Met1Arg
ENST00000508941.5:c.2T>G ENSP00000426426.1:p.Met1Arg
ENST00000511031.1:n.217-3873T>G
ENST00000511982.1:c.2T>G ENSP00000425309.1:p.Met1Arg
ENST00000514217.5:c.2T>G ENSP00000427688.1:p.Met1Arg
ENST00000515665.1:c.2T>G ENSP00000425538.1:p.Met1Arg
XM_005248299.2:c.2T>G XP_005248356.1:p.Met1Arg
XM_005248299.4:c.2T>G XP_005248356.1:p.Met1Arg
XM_005248300.1:c.2T>G XP_005248357.1:p.Met1Arg
XM_011514037.1:c.2T>G XP_011512339.1:p.Met1Arg
XR_001742635.1:n.1533+1888A>C