Canonical Allele Identifier: CA381652786

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704037C>T (hg19) ; chr11:g.68936569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936569C>T , CM000673.2:g.68936569C>T	GRCh38
NC_000011.9:g.68704037C>T , CM000673.1:g.68704037C>T	GRCh37
NC_000011.8:g.68460613C>T	NCBI36
NG_007976.1:g.37719C>T , LRG_250:g.37719C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2089C>T MANE Select	ENSP00000255078.4:p.Pro697Ser
ENST00000674675.1:c.333C>T
ENST00000674878.1:c.333C>T
ENST00000674955.1:c.*806C>T	ENSP00000502463.1:n.*806C>T
ENST00000675118.1:c.1577C>T
ENST00000675389.1:n.364C>T
ENST00000675615.1:c.2089C>T	ENSP00000502413.1:p.Pro697Ser
ENST00000675648.1:n.1464C>T
ENST00000675916.1:c.333C>T
ENST00000676173.1:n.2834C>T
ENST00000676182.1:c.520C>T
ENST00000676228.1:c.*1412C>T	ENSP00000502375.1:n.*1412C>T
ENST00000255078.7:c.2089C>T	ENSP00000255078.3:p.Pro697Ser
ENST00000539064.5:n.1848C>T
ENST00000543739.5:n.1082C>T
NM_002180.2:c.2089C>T , LRG_250t1:c.2089C>T	NP_002171.2:p.Pro697Ser
XM_005273974.2:c.1078C>T	XP_005274031.1:p.Pro360Ser
XM_005273975.2:c.961C>T	XP_005274032.1:p.Pro321Ser
XM_011544994.1:c.856C>T	XP_011543296.1:p.Pro286Ser
XR_949903.1:n.2191C>T
XM_005273975.3:c.961C>T	XP_005274032.1:p.Pro321Ser
XM_017017669.2:c.1078C>T	XP_016873158.1:p.Pro360Ser
XM_017017670.2:c.1078C>T	XP_016873159.1:p.Pro360Ser
XR_949903.3:n.2187C>T
NM_002180.3:c.2089C>T MANE Select	NP_002171.2:p.Pro697Ser