Canonical Allele Identifier: CA273872372

Gene: IREB2

Linked Data

• dbSNP Id: rs534792754
• gnomAD v2: 15-78792528-G-T
• gnomAD v3: 15-78500186-G-T
• gnomAD v4: 15-78500186-G-T
• MyVariant Identifiers: chr15:g.78792528G>T (hg19) ; chr15:g.78500186G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78500186G>T , CM000677.2:g.78500186G>T	GRCh38
NC_000015.9:g.78792528G>T , CM000677.1:g.78792528G>T	GRCh37
NC_000015.8:g.76579583G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000258886.13:c.*2043G>T MANE Select	ENSP00000258886.8:n.*2043G>T
ENST00000258886.12:c.*2043G>T	ENSP00000258886.8:n.*2043G>T
NM_004136.2:c.*2043G>T	NP_004127.1:n.*2043G>T
NM_001320941.1:c.*2043G>T	NP_001307870.1:n.*2043G>T
NM_001320942.1:c.*2043G>T	NP_001307871.1:n.*2043G>T
NM_001354994.1:c.*2043G>T	NP_001341923.1:n.*2043G>T
NM_004136.3:c.*2043G>T	NP_004127.1:n.*2043G>T
NM_004136.4:c.*2043G>T MANE Select	NP_004127.2:n.*2043G>T
NM_001320941.2:c.*2043G>T	NP_001307870.2:n.*2043G>T
NM_001320942.2:c.*2043G>T	NP_001307871.2:n.*2043G>T
NM_001354994.2:c.*2043G>T	NP_001341923.2:n.*2043G>T