Canonical Allele Identifier: CA14426120

Gene: RHBDF2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76475216G>A , CM000679.2:g.76475216G>A	GRCh38
NC_000017.10:g.74471298G>A , CM000679.1:g.74471298G>A	GRCh37
NC_000017.9:g.71982893G>A	NCBI36
NG_032852.1:g.31212C>T , LRG_532:g.31212C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001005498.4:c.1116-75C>T MANE Select	NP_001005498.2:n.1116-75C>T
ENST00000675367.1:c.1116-75C>T MANE Select	ENSP00000501790.1:n.1116-75C>T
NM_001005498.3:c.1116-75C>T	NP_001005498.2:n.1116-75C>T
NM_001376228.1:c.1116-75C>T	NP_001363157.1:n.1116-75C>T
NM_001376229.1:c.1116-75C>T	NP_001363158.1:n.1116-75C>T
NM_001376230.1:c.1116-75C>T	NP_001363159.1:n.1116-75C>T
NM_024599.5:c.1203-75C>T , LRG_532t1:c.1203-75C>T	NP_078875.4:n.1203-75C>T
NR_164785.1:n.1765-75C>T
NR_164786.1:n.1507-75C>T
NR_164787.1:n.1823-75C>T
ENST00000313080.8:c.1203-75C>T	ENSP00000322775.3:n.1203-75C>T
ENST00000589582.5:n.1139-75C>T
ENST00000590168.5:n.390-75C>T
ENST00000591885.5:c.1116-75C>T	ENSP00000466867.1:n.1116-75C>T
XM_005257669.2:c.1203-75C>T	XP_005257726.1:n.1203-75C>T
XM_005257669.3:c.1203-75C>T	XP_005257726.1:n.1203-75C>T
XM_005257670.1:c.1116-75C>T	XP_005257727.1:n.1116-75C>T
XM_011525249.1:c.1116-75C>T	XP_011523551.1:n.1116-75C>T
XM_011525249.2:c.1116-75C>T	XP_011523551.1:n.1116-75C>T
XM_011525250.1:c.1116-75C>T	XP_011523552.1:n.1116-75C>T
XM_011525250.2:c.1116-75C>T	XP_011523552.1:n.1116-75C>T
XM_011525251.1:c.1116-75C>T	XP_011523553.1:n.1116-75C>T
XM_011525251.2:c.1116-75C>T	XP_011523553.1:n.1116-75C>T
XM_011525252.1:c.1203-75C>T	XP_011523554.1:n.1203-75C>T
XM_017025079.1:c.1116-75C>T	XP_016880568.1:n.1116-75C>T
XR_001752625.2:n.1490-75C>T