Canonical Allele Identifier: CA144831

Gene: MRAP2

Linked Data

• ClinVar Variation Id: 66029
• ClinVar RCV Id: RCV000056272
• dbSNP Id: rs587777046
• gnomAD v4: 6-84055388-G-T
• MyVariant Identifiers: chr6:g.84765107G>T (hg19) ; chr6:g.84055388G>T (hg38)
• PubMed: PMID:23869016

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.84055388G>T , CM000668.2:g.84055388G>T	GRCh38
NC_000006.11:g.84765107G>T , CM000668.1:g.84765107G>T	GRCh37
NC_000006.10:g.84821826G>T	NCBI36
NG_051944.1:g.26730G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257776.5:c.70G>T MANE Select	ENSP00000257776.4:p.Glu24Ter
ENST00000257776.4:c.70G>T	ENSP00000257776.4:p.Glu24Ter
NM_138409.2:c.70G>T	NP_612418.2:p.Glu24Ter
XM_005248644.2:c.70G>T	XP_005248701.1:p.Glu24Ter
XM_005248645.2:c.70G>T	XP_005248702.1:p.Glu24Ter
XM_011535400.1:c.70G>T	XP_011533702.1:p.Glu24Ter
XM_011535401.1:c.70G>T	XP_011533703.1:p.Glu24Ter
XM_011535402.1:c.70G>T	XP_011533704.1:p.Glu24Ter
XM_011535403.1:c.70G>T	XP_011533705.1:p.Glu24Ter
NM_001346541.1:c.-89G>T	NP_001333470.1:n.-89G>T
NM_001346542.1:c.70G>T	NP_001333471.1:p.Glu24Ter
NM_001346543.1:c.-190G>T	NP_001333472.1:n.-190G>T
NM_001346544.1:c.70G>T	NP_001333473.1:p.Glu24Ter
NM_138409.3:c.70G>T	NP_612418.2:p.Glu24Ter
XM_017010220.1:c.70G>T	XP_016865709.1:p.Glu24Ter
XM_017010221.2:c.70G>T	XP_016865710.1:p.Glu24Ter
XM_024446318.1:c.70G>T	XP_024302086.1:p.Glu24Ter
NM_138409.4:c.70G>T MANE Select	NP_612418.2:p.Glu24Ter
NM_001346541.2:c.-89G>T	NP_001333470.1:n.-89G>T
NM_001346542.2:c.70G>T	NP_001333471.1:p.Glu24Ter
NM_001346543.2:c.-190G>T	NP_001333472.1:n.-190G>T
NM_001346544.2:c.70G>T	NP_001333473.1:p.Glu24Ter