Canonical Allele Identifier: CA1163757720

Gene: RHBDL2

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38914713T>A , CM000663.2:g.38914713T>A	GRCh38
NC_000001.10:g.39380385T>A , CM000663.1:g.39380385T>A	GRCh37
NC_000001.9:g.39152972T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372990.6:c.395+849A>T MANE Select	ENSP00000362081.1:n.395+849A>T
ENST00000289248.6:c.395+849A>T	ENSP00000289248.2:n.395+849A>T
ENST00000372990.5:c.395+849A>T	ENSP00000362081.1:n.395+849A>T
NM_001304746.1:c.635+849A>T	NP_001291675.1:n.635+849A>T
NM_017821.4:c.395+849A>T	NP_060291.2:n.395+849A>T
XR_001737994.1:n.89+1085T>A
NM_017821.5:c.395+849A>T MANE Select	NP_060291.2:n.395+849A>T
NM_001304746.2:c.635+849A>T	NP_001291675.1:n.635+849A>T