Canonical Allele Identifier: CA2614749507

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933779-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933779T>C , CM000673.2:g.68933779T>C	GRCh38
NC_000011.9:g.68701247T>C , CM000673.1:g.68701247T>C	GRCh37
NC_000011.8:g.68457823T>C	NCBI36
NG_007976.1:g.34929T>C , LRG_250:g.34929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1419-16T>C MANE Select	ENSP00000255078.4:n.1419-16T>C
ENST00000674955.1:c.*136-16T>C	ENSP00000502463.1:n.*136-16T>C
ENST00000675118.1:c.907-16T>C
ENST00000675205.1:n.183+298T>C
ENST00000675615.1:c.1419-16T>C	ENSP00000502413.1:n.1419-16T>C
ENST00000675648.1:n.794-16T>C
ENST00000675997.1:n.113-685T>C
ENST00000676173.1:n.2164-16T>C
ENST00000676228.1:c.*742-16T>C	ENSP00000502375.1:n.*742-16T>C
ENST00000255078.7:c.1419-16T>C	ENSP00000255078.3:n.1419-16T>C
ENST00000537458.5:n.536-16T>C
ENST00000539064.5:n.1178-16T>C
ENST00000541229.5:n.98T>C
ENST00000543739.5:n.536-16T>C
NM_002180.2:c.1419-16T>C , LRG_250t1:c.1419-16T>C	NP_002171.2:n.1419-16T>C
XM_005273974.2:c.408-16T>C	XP_005274031.1:n.408-16T>C
XM_005273975.2:c.291-16T>C	XP_005274032.1:n.291-16T>C
XM_011544994.1:c.186-16T>C	XP_011543296.1:n.186-16T>C
XR_949903.1:n.1521-16T>C
XM_005273975.3:c.291-16T>C	XP_005274032.1:n.291-16T>C
XM_017017669.2:c.408-16T>C	XP_016873158.1:n.408-16T>C
XM_017017670.2:c.408-16T>C	XP_016873159.1:n.408-16T>C
XM_017017671.2:c.1419-16T>C	XP_016873160.1:n.1419-16T>C
XR_949903.3:n.1517-16T>C
NM_002180.3:c.1419-16T>C MANE Select	NP_002171.2:n.1419-16T>C