Canonical Allele Identifier: CA381649437

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1237930222
• gnomAD v2: 11-68700939-C-T
• gnomAD v4: 11-68933471-C-T
• MyVariant Identifiers: chr11:g.68700939C>T (hg19) ; chr11:g.68933471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933471C>T , CM000673.2:g.68933471C>T	GRCh38
NC_000011.9:g.68700939C>T , CM000673.1:g.68700939C>T	GRCh37
NC_000011.8:g.68457515C>T	NCBI36
NG_007976.1:g.34621C>T , LRG_250:g.34621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1408C>T MANE Select	ENSP00000255078.4:p.His470Tyr
ENST00000536803.2:n.319C>T
ENST00000674955.1:c.*125C>T	ENSP00000502463.1:n.*125C>T
ENST00000675118.1:c.896C>T
ENST00000675205.1:n.173C>T
ENST00000675310.1:n.545C>T
ENST00000675615.1:c.1408C>T	ENSP00000502413.1:p.His470Tyr
ENST00000675648.1:n.783C>T
ENST00000675997.1:n.113-993C>T
ENST00000676149.1:n.482C>T
ENST00000676173.1:n.2153C>T
ENST00000676228.1:c.*731C>T	ENSP00000502375.1:n.*731C>T
ENST00000255078.7:c.1408C>T	ENSP00000255078.3:p.His470Tyr
ENST00000537458.5:n.525C>T
ENST00000539064.5:n.1167C>T
ENST00000543739.5:n.525C>T
NM_002180.2:c.1408C>T , LRG_250t1:c.1408C>T	NP_002171.2:p.His470Tyr
XM_005273974.2:c.397C>T	XP_005274031.1:p.His133Tyr
XM_005273975.2:c.280C>T	XP_005274032.1:p.His94Tyr
XM_011544994.1:c.175C>T	XP_011543296.1:p.His59Tyr
XR_949903.1:n.1510C>T
XM_005273975.3:c.280C>T	XP_005274032.1:p.His94Tyr
XM_017017669.2:c.397C>T	XP_016873158.1:p.His133Tyr
XM_017017670.2:c.397C>T	XP_016873159.1:p.His133Tyr
XM_017017671.2:c.1408C>T	XP_016873160.1:p.His470Tyr
XR_949903.3:n.1506C>T
NM_002180.3:c.1408C>T MANE Select	NP_002171.2:p.His470Tyr