Canonical Allele Identifier: CA375483943

Gene: MRPS2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135503655G>C , CM000671.2:g.135503655G>C	GRCh38
NC_000009.11:g.138395501G>C , CM000671.1:g.138395501G>C	GRCh37
NC_000009.10:g.137535322G>C	NCBI36
NG_042313.1:g.8025G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016034.5:c.413G>C MANE Select	NP_057118.1:p.Arg138Pro
ENST00000241600.10:c.413G>C MANE Select	ENSP00000241600.5:p.Arg138Pro
NM_001371401.1:c.413G>C	NP_001358330.1:p.Arg138Pro
NM_016034.4:c.413G>C	NP_057118.1:p.Arg138Pro
NR_051967.1:n.636G>C
NR_051967.3:n.585G>C
NR_051968.1:n.691G>C
NR_051968.2:n.640G>C
NR_051969.1:n.696G>C
NR_051969.2:n.645G>C
NR_051970.1:n.638G>C
NR_051970.2:n.587G>C
NR_121579.1:n.735C>G
ENST00000241600.9:c.413G>C	ENSP00000241600.5:p.Arg138Pro
ENST00000371785.5:c.413G>C	ENSP00000360850.1:p.Arg138Pro
ENST00000453385.1:c.455G>C	ENSP00000400082.1:p.Arg152Pro
ENST00000462948.6:c.*286G>C	ENSP00000511903.1:n.*286G>C
ENST00000472852.1:n.554G>C
ENST00000472852.2:c.*219G>C	ENSP00000511904.1:n.*219G>C
ENST00000472946.1:n.164G>C
ENST00000472946.2:n.178G>C
ENST00000485333.5:n.560G>C
ENST00000485333.6:c.*244G>C	ENSP00000511905.1:n.*244G>C
ENST00000488610.5:n.623G>C
ENST00000488610.6:c.*302G>C	ENSP00000511906.1:n.*302G>C
XM_006717136.2:c.482G>C	XP_006717199.1:p.Arg161Pro
XM_006717136.3:c.482G>C	XP_006717199.1:p.Arg161Pro