Canonical Allele Identifier: CA79035725

Gene: CHMP2B

Linked Data

• dbSNP Id: rs535708981
• gnomAD v3: 3-87253183-TATAAG-T
• gnomAD v4: 3-87253183-TATAAG-T
• MyVariant Identifiers: chr3:g.87302334_87302338del (hg19) ; chr3:g.87253184_87253188del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87253188_87253192del , CM000665.2:g.87253188_87253192del	GRCh38
NC_000003.11:g.87302338_87302342del , CM000665.1:g.87302338_87302342del	GRCh37
NC_000003.10:g.87385028_87385032del	NCBI36
NG_007885.1:g.30926_30930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.425-216_425-212del MANE Select	ENSP00000263780.4:n.425-216_425-212del
ENST00000472024.3:c.473-216_473-212del	ENSP00000480032.2:n.473-216_473-212del
ENST00000676705.1:c.473-216_473-212del	ENSP00000504098.1:n.473-216_473-212del
ENST00000677929.1:n.3873_3877del
ENST00000678859.1:n.3958_3962del
ENST00000263780.8:c.425-216_425-212del	ENSP00000263780.4:n.425-216_425-212del
ENST00000466696.1:n.140_144del
ENST00000471660.5:c.302-216_302-212del	ENSP00000419998.1:n.302-216_302-212del
ENST00000472024.2:c.473-216_473-212del	ENSP00000480032.1:n.473-216_473-212del
ENST00000494980.5:c.335-216_335-212del	ENSP00000418920.1:n.335-216_335-212del
NM_001244644.1:c.302-216_302-212del	NP_001231573.1:n.302-216_302-212del
NM_014043.3:c.425-216_425-212del	NP_054762.2:n.425-216_425-212del
XM_011533576.1:c.473-216_473-212del	XP_011531878.1:n.473-216_473-212del
XM_011533576.2:c.473-216_473-212del	XP_011531878.1:n.473-216_473-212del
NM_014043.4:c.425-216_425-212del MANE Select	NP_054762.2:n.425-216_425-212del
NM_001244644.2:c.302-216_302-212del	NP_001231573.1:n.302-216_302-212del