Canonical Allele Identifier: CA2517871019

Gene: SPTBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66705421_66705422insGG , CM000673.2:g.66705421_66705422insGG	GRCh38
NC_000011.9:g.66472892_66472893insGG , CM000673.1:g.66472892_66472893insGG	GRCh37
NC_000011.8:g.66229468_66229469insGG	NCBI36
NG_016150.1:g.20979_20980insCC
NG_016150.2:g.28941_28942insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309996.7:c.1855_1856insCC	ENSP00000311489.2:p.Leu619ProfsTer2
ENST00000611817.5:c.1855_1856insCC	ENSP00000480692.2:p.Leu619ProfsTer2
ENST00000617502.5:c.1876_1877insCC	ENSP00000482000.2:p.Leu626ProfsTer2
ENST00000647510.2:c.1855_1856insCC	ENSP00000508362.1:p.Leu619ProfsTer2
ENST00000533211.6:c.1855_1856insCC MANE Select	ENSP00000432568.1:p.Leu619ProfsTer2
ENST00000647510.1:n.2382_2383insCC
ENST00000309996.6:c.1855_1856insCC	ENSP00000311489.2:p.Leu619ProfsTer2
ENST00000529997.5:c.1855_1856insCC	ENSP00000433593.1:p.Leu619ProfsTer2
ENST00000533211.5:c.1855_1856insCC	ENSP00000432568.1:p.Leu619ProfsTer2
ENST00000611817.4:c.1854+1_1854+2insCC	ENSP00000480692.1:n.1854+1_1854+2insCC
ENST00000617502.4:c.1845+10_1845+11insCC	ENSP00000482000.1:n.1845+10_1845+11insCC
NM_006946.2:c.1855_1856insCC	NP_008877.1:p.Leu619ProfsTer2
XM_005274192.3:c.1855_1856insCC	XP_005274249.1:p.Leu619ProfsTer2
XM_005274193.3:c.1855_1856insCC	XP_005274250.1:p.Leu619ProfsTer2
XM_006718669.2:c.1876_1877insCC	XP_006718732.1:p.Leu626ProfsTer2
XM_006718671.2:c.1855_1856insCC	XP_006718734.1:p.Leu619ProfsTer2
XM_011545216.1:c.1876_1877insCC	XP_011543518.1:p.Leu626ProfsTer2
XM_011545217.1:c.1876_1877insCC	XP_011543519.1:p.Leu626ProfsTer2
NM_006946.3:c.1855_1856insCC	NP_008877.1:p.Leu619ProfsTer2
XM_005274192.4:c.1855_1856insCC	XP_005274249.1:p.Leu619ProfsTer2
XM_006718669.3:c.1876_1877insCC	XP_006718732.1:p.Leu626ProfsTer2
XM_006718671.4:c.1855_1856insCC	XP_006718734.1:p.Leu619ProfsTer2
XM_011545216.3:c.1876_1877insCC	XP_011543518.1:p.Leu626ProfsTer2
XM_011545217.2:c.1876_1877insCC	XP_011543519.1:p.Leu626ProfsTer2
XM_017018174.1:c.1855_1856insCC	XP_016873663.1:p.Leu619ProfsTer2
XM_017018175.2:c.1855_1856insCC	XP_016873664.1:p.Leu619ProfsTer2
XM_017018176.1:c.1855_1856insCC	XP_016873665.1:p.Leu619ProfsTer2
XM_017018177.2:c.1855_1856insCC	XP_016873666.1:p.Leu619ProfsTer2
XM_017018178.1:c.1855_1856insCC	XP_016873667.1:p.Leu619ProfsTer2
NM_006946.4:c.1855_1856insCC MANE Select	NP_008877.2:p.Leu619ProfsTer2