Canonical Allele Identifier: CA2838504775

Gene: MRS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24403214del , CM000668.2:g.24403214del	GRCh38
NC_000006.11:g.24403442del , CM000668.1:g.24403442del	GRCh37
NC_000006.10:g.24511421del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378386.8:c.168del MANE Select	ENSP00000367637.3:p.Asp58ThrfsTer22
ENST00000274747.11:c.168del	ENSP00000274747.8:p.Asp58ThrfsTer22
ENST00000378353.5:c.168del	ENSP00000367604.1:p.Asp58ThrfsTer22
ENST00000378386.7:c.168del	ENSP00000367637.3:p.Asp58ThrfsTer22
ENST00000443868.6:c.168del	ENSP00000399585.2:p.Asp58ThrfsTer22
ENST00000446191.1:c.23del
ENST00000483634.1:n.261del
NM_001286264.1:c.168del	NP_001273193.1:p.Asp58ThrfsTer22
NM_001286265.1:c.168del	NP_001273194.1:p.Asp58ThrfsTer22
NM_001286266.1:c.168del	NP_001273195.1:p.Asp58ThrfsTer22
NM_020662.3:c.168del	NP_065713.1:p.Asp58ThrfsTer22
NR_104423.1:n.307del
XM_005249242.1:c.168del	XP_005249299.1:p.Asp58ThrfsTer22
XM_005249242.2:c.168del	XP_005249299.1:p.Asp58ThrfsTer22
XR_001743533.2:n.279del
NM_020662.4:c.168del MANE Select	NP_065713.1:p.Asp58ThrfsTer22
NR_104423.2:n.279del
NM_001286264.2:c.168del	NP_001273193.1:p.Asp58ThrfsTer22
NM_001286265.2:c.168del	NP_001273194.1:p.Asp58ThrfsTer22
NM_001286266.2:c.168del	NP_001273195.1:p.Asp58ThrfsTer22