Canonical Allele Identifier: CA381643262

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68675739T>C (hg19) ; chr11:g.68908271T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908271T>C , CM000673.2:g.68908271T>C	GRCh38
NC_000011.9:g.68675739T>C , CM000673.1:g.68675739T>C	GRCh37
NC_000011.8:g.68432315T>C	NCBI36
NG_007976.1:g.9421T>C , LRG_250:g.9421T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.383T>C MANE Select	ENSP00000255078.4:p.Leu128Ser
ENST00000539224.2:c.346T>C
ENST00000674583.1:c.346T>C
ENST00000674597.1:c.194T>C
ENST00000674955.1:c.383T>C	ENSP00000502463.1:p.Leu128Ser
ENST00000675142.1:n.346T>C
ENST00000675469.1:c.259T>C
ENST00000675615.1:c.383T>C	ENSP00000502413.1:p.Leu128Ser
ENST00000675674.1:n.346T>C
ENST00000675873.1:c.346T>C
ENST00000676173.1:n.427T>C
ENST00000676228.1:c.383T>C	ENSP00000502375.1:p.Leu128Ser
ENST00000255078.7:c.383T>C	ENSP00000255078.3:p.Leu128Ser
ENST00000539224.1:c.383T>C	ENSP00000440465.1:p.Leu128Ser
ENST00000544541.1:c.*123T>C	ENSP00000443343.1:n.*123T>C
NM_002180.2:c.383T>C , LRG_250t1:c.383T>C	NP_002171.2:p.Leu128Ser
XM_005273974.2:c.-629T>C	XP_005274031.1:n.-629T>C
XM_005273976.1:c.383T>C	XP_005274033.1:p.Leu128Ser
XR_247198.1:n.485T>C
XR_949903.1:n.485T>C
XM_005273976.2:c.383T>C	XP_005274033.1:p.Leu128Ser
XM_017017669.2:c.-531T>C	XP_016873158.1:n.-531T>C
XM_017017671.2:c.383T>C	XP_016873160.1:p.Leu128Ser
XR_949903.3:n.481T>C
NM_002180.3:c.383T>C MANE Select	NP_002171.2:p.Leu128Ser