Canonical Allele Identifier: CA325022

Gene: ENG

Linked Data

• ClinVar Variation Id: 213217
• ClinVar RCV Id: RCV000200447 ; RCV001853140 ; RCV002390515
• dbSNP Id: rs863223543
• MyVariant Identifiers: chr9:g.130580993A>G (hg19) ; chr9:g.127818714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818714A>G , CM000671.2:g.127818714A>G	GRCh38
NC_000009.11:g.130580993A>G , CM000671.1:g.130580993A>G	GRCh37
NC_000009.10:g.129620814A>G	NCBI36
NG_009551.1:g.41055T>C , LRG_589:g.41055T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.882+2T>C	ENSP00000479015.1:n.882+2T>C
ENST00000373203.9:c.1428+2T>C MANE Select	ENSP00000362299.4:n.1428+2T>C
ENST00000344849.4:c.1428+2T>C	ENSP00000341917.3:n.1428+2T>C
ENST00000373203.8:c.1428+2T>C	ENSP00000362299.4:n.1428+2T>C
ENST00000480266.5:c.882+2T>C	ENSP00000479015.1:n.882+2T>C
NM_000118.3:c.1428+2T>C , LRG_589t1:c.1428+2T>C	NP_000109.1:n.1428+2T>C
NM_001114753.2:c.1428+2T>C , LRG_589t2:c.1428+2T>C	NP_001108225.1:n.1428+2T>C
NM_001278138.1:c.882+2T>C	NP_001265067.1:n.882+2T>C
NR_136302.1:n.1568+3A>G
NM_001114753.3:c.1428+2T>C MANE Select	NP_001108225.1:n.1428+2T>C
NM_001278138.2:c.882+2T>C	NP_001265067.1:n.882+2T>C