Canonical Allele Identifier: CA6153338

Gene: IGHMBP2

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68911494T>C , CM000673.2:g.68911494T>C	GRCh38
NC_000011.9:g.68678962T>C , CM000673.1:g.68678962T>C	GRCh37
NC_000011.8:g.68435538T>C	NCBI36
NG_007976.1:g.12644T>C , LRG_250:g.12644T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.602T>C MANE Select	ENSP00000255078.4:p.Leu201Ser
ENST00000539224.2:c.565T>C
ENST00000674583.1:c.565T>C
ENST00000674955.1:c.602T>C	ENSP00000502463.1:p.Leu201Ser
ENST00000675142.1:n.565T>C
ENST00000675615.1:c.602T>C	ENSP00000502413.1:p.Leu201Ser
ENST00000675674.1:n.565T>C
ENST00000675683.1:c.98+2863T>C
ENST00000675873.1:c.565T>C
ENST00000676173.1:n.646T>C
ENST00000676228.1:c.504T>C	ENSP00000502375.1:p.Phe168=
ENST00000255078.7:c.602T>C	ENSP00000255078.3:p.Leu201Ser
ENST00000539224.1:c.504T>C	ENSP00000440465.1:p.Phe168=
NM_002180.2:c.602T>C , LRG_250t1:c.602T>C	NP_002171.2:p.Leu201Ser
XM_005273974.2:c.-410T>C	XP_005274031.1:n.-410T>C
XM_005273976.1:c.602T>C	XP_005274033.1:p.Leu201Ser
XR_247198.1:n.704T>C
XR_949903.1:n.704T>C
XM_005273976.2:c.602T>C	XP_005274033.1:p.Leu201Ser
XM_017017669.2:c.-410T>C	XP_016873158.1:n.-410T>C
XM_017017671.2:c.602T>C	XP_016873160.1:p.Leu201Ser
XR_949903.3:n.700T>C
NM_002180.3:c.602T>C MANE Select	NP_002171.2:p.Leu201Ser