Canonical Allele Identifier: CA2614439111

Gene: SF3B2

Linked Data

• gnomAD v4: 11-66063338-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66063338C>T , CM000673.2:g.66063338C>T	GRCh38
NC_000011.9:g.65830809C>T , CM000673.1:g.65830809C>T	GRCh37
NC_000011.8:g.65587385C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000322535.11:c.2086-62C>T MANE Select	ENSP00000318861.6:n.2086-62C>T
ENST00000322535.10:c.2086-62C>T	ENSP00000318861.6:n.2086-62C>T
ENST00000528302.5:c.2035-62C>T	ENSP00000432655.1:n.2035-62C>T
ENST00000530981.1:c.348-62C>T
ENST00000610523.4:c.2014-62C>T	ENSP00000482986.1:n.2014-62C>T
NM_006842.2:c.2086-62C>T	NP_006833.2:n.2086-62C>T
XM_005273726.2:c.2083-62C>T	XP_005273783.1:n.2083-62C>T
XM_011544740.1:c.2083-62C>T	XP_011543042.1:n.2083-62C>T
XM_005273726.4:c.2083-62C>T	XP_005273783.1:n.2083-62C>T
XM_011544740.3:c.2083-62C>T	XP_011543042.1:n.2083-62C>T
XM_017017144.2:c.2080-62C>T	XP_016872633.1:n.2080-62C>T
NM_006842.3:c.2086-62C>T MANE Select	NP_006833.2:n.2086-62C>T