Canonical Allele Identifier: CA353696929

Gene: CHMP2B

Linked Data

• MyVariant Identifiers: chr3:g.87294950G>T (hg19) ; chr3:g.87245800G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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