Canonical Allele Identifier: CA381649806

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1324405622
• gnomAD v2: 11-68701298-G-C
• MyVariant Identifiers: chr11:g.68701298G>C (hg19) ; chr11:g.68933830G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933830G>C , CM000673.2:g.68933830G>C	GRCh38
NC_000011.9:g.68701298G>C , CM000673.1:g.68701298G>C	GRCh37
NC_000011.8:g.68457874G>C	NCBI36
NG_007976.1:g.34980G>C , LRG_250:g.34980G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1454G>C MANE Select	ENSP00000255078.4:p.Gly485Ala
ENST00000674955.1:c.*171G>C	ENSP00000502463.1:n.*171G>C
ENST00000675118.1:c.942G>C
ENST00000675205.1:n.183+349G>C
ENST00000675615.1:c.1454G>C	ENSP00000502413.1:p.Gly485Ala
ENST00000675648.1:n.829G>C
ENST00000675997.1:n.113-634G>C
ENST00000676173.1:n.2199G>C
ENST00000676228.1:c.*777G>C	ENSP00000502375.1:n.*777G>C
ENST00000255078.7:c.1454G>C	ENSP00000255078.3:p.Gly485Ala
ENST00000537458.5:n.571G>C
ENST00000539064.5:n.1213G>C
ENST00000541229.5:n.149G>C
ENST00000543739.5:n.571G>C
NM_002180.2:c.1454G>C , LRG_250t1:c.1454G>C	NP_002171.2:p.Gly485Ala
XM_005273974.2:c.443G>C	XP_005274031.1:p.Gly148Ala
XM_005273975.2:c.326G>C	XP_005274032.1:p.Gly109Ala
XM_011544994.1:c.221G>C	XP_011543296.1:p.Gly74Ala
XR_949903.1:n.1556G>C
XM_005273975.3:c.326G>C	XP_005274032.1:p.Gly109Ala
XM_017017669.2:c.443G>C	XP_016873158.1:p.Gly148Ala
XM_017017670.2:c.443G>C	XP_016873159.1:p.Gly148Ala
XM_017017671.2:c.1454G>C	XP_016873160.1:p.Gly485Ala
XR_949903.3:n.1552G>C
NM_002180.3:c.1454G>C MANE Select	NP_002171.2:p.Gly485Ala