Canonical Allele Identifier: CA294180505

Gene: RHBDF2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76470935G>A , CM000679.2:g.76470935G>A	GRCh38
NC_000017.10:g.74467017G>A , CM000679.1:g.74467017G>A	GRCh37
NC_000017.9:g.71978612G>A	NCBI36
NG_015976.1:g.22585G>A
NG_032852.1:g.35493C>T , LRG_532:g.35493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675367.1:c.*698C>T MANE Select	ENSP00000501790.1:n.*698C>T
ENST00000313080.8:c.*698C>T	ENSP00000322775.3:n.*698C>T
ENST00000590168.5:n.2621C>T
NM_001005498.3:c.*698C>T	NP_001005498.2:n.*698C>T
NM_024599.5:c.*698C>T , LRG_532t1:c.*698C>T	NP_078875.4:n.*698C>T
XM_005257669.2:c.*698C>T	XP_005257726.1:n.*698C>T
XM_005257670.1:c.*698C>T	XP_005257727.1:n.*698C>T
XM_011525249.1:c.*698C>T	XP_011523551.1:n.*698C>T
XM_011525250.1:c.*698C>T	XP_011523552.1:n.*698C>T
XM_011525251.1:c.*698C>T	XP_011523553.1:n.*698C>T
XM_005257669.3:c.*698C>T	XP_005257726.1:n.*698C>T
XM_011525249.2:c.*698C>T	XP_011523551.1:n.*698C>T
XM_011525250.2:c.*698C>T	XP_011523552.1:n.*698C>T
XM_011525251.2:c.*698C>T	XP_011523553.1:n.*698C>T
XM_017025079.1:c.*698C>T	XP_016880568.1:n.*698C>T
XR_001752625.2:n.3626C>T
NM_001005498.4:c.*698C>T MANE Select	NP_001005498.2:n.*698C>T
NM_001376228.1:c.*698C>T	NP_001363157.1:n.*698C>T
NM_001376229.1:c.*698C>T	NP_001363158.1:n.*698C>T
NM_001376230.1:c.*698C>T	NP_001363159.1:n.*698C>T
NR_164785.1:n.3901C>T
NR_164786.1:n.3643C>T
NR_164787.1:n.3959C>T