Canonical Allele Identifier: CA2614527998

Gene: SPTBN2

Linked Data

• gnomAD v4: 11-66698796-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66698798_66698799del , CM000673.2:g.66698798_66698799del	GRCh38
NC_000011.9:g.66466269_66466270del , CM000673.1:g.66466269_66466270del	GRCh37
NC_000011.8:g.66222845_66222846del	NCBI36
NG_016150.1:g.27602_27603del
NG_016150.2:g.35564_35565del

Transcript Alleles

HGVS	Amino-acid change
ENST00000309996.7:c.3868-13_3868-12del	ENSP00000311489.2:n.3868-13_3868-12del
ENST00000611817.5:c.3868-13_3868-12del	ENSP00000480692.2:n.3868-13_3868-12del
ENST00000617502.5:c.3889-13_3889-12del	ENSP00000482000.2:n.3889-13_3889-12del
ENST00000647510.2:c.3868-13_3868-12del	ENSP00000508362.1:n.3868-13_3868-12del
ENST00000533211.6:c.3868-13_3868-12del MANE Select	ENSP00000432568.1:n.3868-13_3868-12del
ENST00000647510.1:n.4395-13_4395-12del
ENST00000309996.6:c.3868-13_3868-12del	ENSP00000311489.2:n.3868-13_3868-12del
ENST00000529997.5:c.3868-13_3868-12del	ENSP00000433593.1:n.3868-13_3868-12del
ENST00000530665.1:n.10_11del
ENST00000533211.5:c.3868-13_3868-12del	ENSP00000432568.1:n.3868-13_3868-12del
ENST00000611817.4:c.1854+6624_1854+6625del	ENSP00000480692.1:n.1854+6624_1854+6625de...
ENST00000617502.4:c.1845+6633_1845+6634del	ENSP00000482000.1:n.1845+6633_1845+6634de...
NM_006946.2:c.3868-13_3868-12del	NP_008877.1:n.3868-13_3868-12del
XM_005274192.3:c.3868-13_3868-12del	XP_005274249.1:n.3868-13_3868-12del
XM_005274193.3:c.3868-13_3868-12del	XP_005274250.1:n.3868-13_3868-12del
XM_006718669.2:c.3889-13_3889-12del	XP_006718732.1:n.3889-13_3889-12del
XM_006718671.2:c.3868-13_3868-12del	XP_006718734.1:n.3868-13_3868-12del
XM_011545216.1:c.3889-13_3889-12del	XP_011543518.1:n.3889-13_3889-12del
XM_011545217.1:c.3889-13_3889-12del	XP_011543519.1:n.3889-13_3889-12del
NM_006946.3:c.3868-13_3868-12del	NP_008877.1:n.3868-13_3868-12del
XM_005274192.4:c.3868-13_3868-12del	XP_005274249.1:n.3868-13_3868-12del
XM_006718669.3:c.3889-13_3889-12del	XP_006718732.1:n.3889-13_3889-12del
XM_006718671.4:c.3868-13_3868-12del	XP_006718734.1:n.3868-13_3868-12del
XM_011545216.3:c.3889-13_3889-12del	XP_011543518.1:n.3889-13_3889-12del
XM_011545217.2:c.3889-13_3889-12del	XP_011543519.1:n.3889-13_3889-12del
XM_017018174.1:c.3868-13_3868-12del	XP_016873663.1:n.3868-13_3868-12del
XM_017018175.2:c.3868-13_3868-12del	XP_016873664.1:n.3868-13_3868-12del
XM_017018176.1:c.3868-13_3868-12del	XP_016873665.1:n.3868-13_3868-12del
XM_017018177.2:c.3868-13_3868-12del	XP_016873666.1:n.3868-13_3868-12del
XM_017018178.1:c.3868-13_3868-12del	XP_016873667.1:n.3868-13_3868-12del
NM_006946.4:c.3868-13_3868-12del MANE Select	NP_008877.2:n.3868-13_3868-12del