Canonical Allele Identifier: CA835663712

Gene: EN2

Linked Data

• dbSNP Id: rs1188733321
• gnomAD v3: 7-155463330-T-C
• gnomAD v4: 7-155463330-T-C
• MyVariant Identifiers: chr7:g.155256025T>C (hg19) ; chr7:g.155463330T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155463330T>C , CM000669.2:g.155463330T>C	GRCh38
NC_000007.13:g.155256025T>C , CM000669.1:g.155256025T>C	GRCh37
NC_000007.12:g.154948786T>C	NCBI36
NG_007124.1:g.11611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297375.4:c.*643T>C MANE Select	ENSP00000297375.4:n.*643T>C
NM_001427.3:c.*643T>C	NP_001418.2:n.*643T>C
NM_001427.4:c.*643T>C MANE Select	NP_001418.2:n.*643T>C