Canonical Allele Identifier: CA2614750090

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68934058-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934058G>C , CM000673.2:g.68934058G>C	GRCh38
NC_000011.9:g.68701526G>C , CM000673.1:g.68701526G>C	GRCh37
NC_000011.8:g.68458102G>C	NCBI36
NG_007976.1:g.35208G>C , LRG_250:g.35208G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+145G>C MANE Select	ENSP00000255078.4:n.1537+145G>C
ENST00000674955.1:c.*254+145G>C	ENSP00000502463.1:n.*254+145G>C
ENST00000675118.1:c.1025+145G>C
ENST00000675205.1:n.184-406G>C
ENST00000675615.1:c.1537+145G>C	ENSP00000502413.1:n.1537+145G>C
ENST00000675648.1:n.912+145G>C
ENST00000675997.1:n.113-406G>C
ENST00000676173.1:n.2282+145G>C
ENST00000676228.1:c.*860+145G>C	ENSP00000502375.1:n.*860+145G>C
ENST00000255078.7:c.1537+145G>C	ENSP00000255078.3:n.1537+145G>C
ENST00000537458.5:n.799G>C
ENST00000539064.5:n.1296+145G>C
ENST00000541229.5:n.232+145G>C
ENST00000543739.5:n.654+145G>C
NM_002180.2:c.1537+145G>C , LRG_250t1:c.1537+145G>C	NP_002171.2:n.1537+145G>C
XM_005273974.2:c.526+145G>C	XP_005274031.1:n.526+145G>C
XM_005273975.2:c.409+145G>C	XP_005274032.1:n.409+145G>C
XM_011544994.1:c.304+145G>C	XP_011543296.1:n.304+145G>C
XR_949903.1:n.1639+145G>C
XM_005273975.3:c.409+145G>C	XP_005274032.1:n.409+145G>C
XM_017017669.2:c.526+145G>C	XP_016873158.1:n.526+145G>C
XM_017017670.2:c.526+145G>C	XP_016873159.1:n.526+145G>C
XM_017017671.2:c.1537+145G>C	XP_016873160.1:n.1537+145G>C
XR_949903.3:n.1635+145G>C
NM_002180.3:c.1537+145G>C MANE Select	NP_002171.2:n.1537+145G>C