Canonical Allele Identifier: CA405954316

Gene: RAB4B RAB4B-EGLN2 MIA-RAB4B

Linked Data

• MyVariant Identifiers: chr19:g.41292853G>C (hg19) ; chr19:g.40786948G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40786948G>C , CM000681.2:g.40786948G>C	GRCh38
NC_000019.9:g.41292853G>C , CM000681.1:g.41292853G>C	GRCh37
NC_000019.8:g.45984693G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357052.8:c.627G>C (RAB4B) MANE Select	ENSP00000349560.2:p.Gln209His
ENST00000594136.2:c.627G>C (RAB4B-EGLN2)	ENSP00000469872.1:p.Gln209His
ENST00000596216.2:n.844G>C (RAB4B-EGLN2)
ENST00000600729.2:c.*587G>C (MIA-RAB4B)	ENSP00000472384.1:n.*587G>C
ENST00000357052.7:c.627G>C (RAB4B)	ENSP00000349560.2:p.Gln209His
ENST00000378307.9:c.*106G>C (RAB4B)	ENSP00000367557.4:n.*106G>C
ENST00000594136.1:c.627G>C (RAB4B-EGLN2)	ENSP00000469872.1:p.Gln209His
ENST00000594800.5:c.627G>C (RAB4B)	ENSP00000470246.1:p.Gln209His
ENST00000596216.1:n.536G>C (RAB4B-EGLN2)
ENST00000597476.5:n.1583G>C (RAB4B)
ENST00000598430.1:n.1329G>C (RAB4B)
ENST00000601949.5:n.347G>C (RAB4B-EGLN2)
ENST00000602173.5:c.562G>C (RAB4B)
NM_016154.4:c.627G>C (RAB4B)	NP_057238.3:p.Gln209His
NR_037775.1:n.989G>C (MIA-RAB4B)
NR_037791.1:n.784G>C (RAB4B-EGLN2)
NM_016154.5:c.627G>C (RAB4B) MANE Select	NP_057238.3:p.Gln209His