Canonical Allele Identifier: CA475204259

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703739C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936271C>A , CM000673.2:g.68936271C>A	GRCh38
NC_000011.9:g.68703739C>A , CM000673.1:g.68703739C>A	GRCh37
NC_000011.8:g.68460315C>A	NCBI36
NG_007976.1:g.37421C>A , LRG_250:g.37421C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1791C>A MANE Select	ENSP00000255078.4:p.Ile597=
ENST00000674675.1:c.35C>A
ENST00000674878.1:c.35C>A
ENST00000674955.1:c.*508C>A	ENSP00000502463.1:n.*508C>A
ENST00000675118.1:c.1279C>A
ENST00000675389.1:n.66C>A
ENST00000675615.1:c.1791C>A	ENSP00000502413.1:p.Ile597=
ENST00000675648.1:n.1166C>A
ENST00000675916.1:c.35C>A
ENST00000676173.1:n.2536C>A
ENST00000676182.1:c.222C>A
ENST00000676228.1:c.*1114C>A	ENSP00000502375.1:n.*1114C>A
ENST00000255078.7:c.1791C>A	ENSP00000255078.3:p.Ile597=
ENST00000539064.5:n.1550C>A
ENST00000541229.5:n.486C>A
ENST00000543739.5:n.784C>A
ENST00000545475.1:n.387C>A
NM_002180.2:c.1791C>A , LRG_250t1:c.1791C>A	NP_002171.2:p.Ile597=
XM_005273974.2:c.780C>A	XP_005274031.1:p.Ile260=
XM_005273975.2:c.663C>A	XP_005274032.1:p.Ile221=
XM_011544994.1:c.558C>A	XP_011543296.1:p.Ile186=
XR_949903.1:n.1893C>A
XM_005273975.3:c.663C>A	XP_005274032.1:p.Ile221=
XM_017017669.2:c.780C>A	XP_016873158.1:p.Ile260=
XM_017017670.2:c.780C>A	XP_016873159.1:p.Ile260=
XR_949903.3:n.1889C>A
NM_002180.3:c.1791C>A MANE Select	NP_002171.2:p.Ile597=