Canonical Allele Identifier: CA79034946

Gene: CHMP2B

Linked Data

• dbSNP Id: rs139126268
• gnomAD v2: 3-87294950-G-C
• gnomAD v3: 3-87245800-G-C
• gnomAD v4: 3-87245800-G-C
• MyVariant Identifiers: chr3:g.87294950G>C (hg19) ; chr3:g.87245800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87245800G>C , CM000665.2:g.87245800G>C	GRCh38
NC_000003.11:g.87294950G>C , CM000665.1:g.87294950G>C	GRCh37
NC_000003.10:g.87377640G>C	NCBI36
NG_007885.1:g.23538G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263780.9:c.213G>C MANE Select	ENSP00000263780.4:p.Gln71His
ENST00000472024.3:c.261G>C	ENSP00000480032.2:p.Gln87His
ENST00000676705.1:c.261G>C	ENSP00000504098.1:p.Gln87His
ENST00000676947.1:n.366G>C
ENST00000677929.1:n.451G>C
ENST00000678818.1:n.1063-615G>C
ENST00000678859.1:n.536G>C
ENST00000263780.8:c.213G>C	ENSP00000263780.4:p.Gln71His
ENST00000471660.5:c.90G>C	ENSP00000419998.1:p.Gln30His
ENST00000472024.2:c.261G>C	ENSP00000480032.1:p.Gln87His
ENST00000494980.5:c.213G>C	ENSP00000418920.1:p.Gln71His
NM_001244644.1:c.90G>C	NP_001231573.1:p.Gln30His
NM_014043.3:c.213G>C	NP_054762.2:p.Gln71His
XM_011533576.1:c.261G>C	XP_011531878.1:p.Gln87His
XM_011533576.2:c.261G>C	XP_011531878.1:p.Gln87His
NM_014043.4:c.213G>C MANE Select	NP_054762.2:p.Gln71His
NM_001244644.2:c.90G>C	NP_001231573.1:p.Gln30His