Canonical Allele Identifier: CA540538853

Gene: AGXT

Linked Data

• dbSNP Id: rs1159376417
• gnomAD v2: 2-241818111-GC-G
• gnomAD v3: 2-240878694-GC-G
• gnomAD v4: 2-240878694-GC-G
• MyVariant Identifiers: chr2:g.241818112del (hg19) ; chr2:g.240878695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240878697del , CM000664.2:g.240878697del	GRCh38
NC_000002.11:g.241818114del , CM000664.1:g.241818114del	GRCh37
NC_000002.10:g.241466787del	NCBI36
NG_008005.1:g.14953del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.1072-17del MANE Select	ENSP00000302620.3:n.1072-17del
ENST00000307503.3:c.1072-17del	ENSP00000302620.3:n.1072-17del
ENST00000470255.1:n.850-17del
NM_000030.2:c.1072-17del	NP_000021.1:n.1072-17del
NM_000030.3:c.1072-17del MANE Select	NP_000021.1:n.1072-17del