Canonical Allele Identifier: CA381652619

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1012806
• ClinVar RCV Id: RCV001310975
• dbSNP Id: rs1859533403
• MyVariant Identifiers: chr11:g.68703956G>T (hg19) ; chr11:g.68936488G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936488G>T , CM000673.2:g.68936488G>T	GRCh38
NC_000011.9:g.68703956G>T , CM000673.1:g.68703956G>T	GRCh37
NC_000011.8:g.68460532G>T	NCBI36
NG_007976.1:g.37638G>T , LRG_250:g.37638G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2008G>T MANE Select	ENSP00000255078.4:p.Ala670Ser
ENST00000674675.1:c.252G>T
ENST00000674878.1:c.252G>T
ENST00000674955.1:c.*725G>T	ENSP00000502463.1:n.*725G>T
ENST00000675118.1:c.1496G>T
ENST00000675389.1:n.283G>T
ENST00000675615.1:c.2008G>T	ENSP00000502413.1:p.Ala670Ser
ENST00000675648.1:n.1383G>T
ENST00000675916.1:c.252G>T
ENST00000676173.1:n.2753G>T
ENST00000676182.1:c.439G>T
ENST00000676228.1:c.*1331G>T	ENSP00000502375.1:n.*1331G>T
ENST00000255078.7:c.2008G>T	ENSP00000255078.3:p.Ala670Ser
ENST00000539064.5:n.1767G>T
ENST00000543739.5:n.1001G>T
NM_002180.2:c.2008G>T , LRG_250t1:c.2008G>T	NP_002171.2:p.Ala670Ser
XM_005273974.2:c.997G>T	XP_005274031.1:p.Ala333Ser
XM_005273975.2:c.880G>T	XP_005274032.1:p.Ala294Ser
XM_011544994.1:c.775G>T	XP_011543296.1:p.Ala259Ser
XR_949903.1:n.2110G>T
XM_005273975.3:c.880G>T	XP_005274032.1:p.Ala294Ser
XM_017017669.2:c.997G>T	XP_016873158.1:p.Ala333Ser
XM_017017670.2:c.997G>T	XP_016873159.1:p.Ala333Ser
XR_949903.3:n.2106G>T
NM_002180.3:c.2008G>T MANE Select	NP_002171.2:p.Ala670Ser