Canonical Allele Identifier: CA540537976

Gene: AGXT

Linked Data

• dbSNP Id: rs1301722722
• gnomAD v2: 2-241816792-GGTA-G
• gnomAD v3: 2-240877375-GGTA-G
• gnomAD v4: 2-240877375-GGTA-G
• MyVariant Identifiers: chr2:g.241816793_241816795del (hg19) ; chr2:g.240877376_240877378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240877378_240877380del , CM000664.2:g.240877378_240877380del	GRCh38
NC_000002.11:g.241816795_241816797del , CM000664.1:g.241816795_241816797del	GRCh37
NC_000002.10:g.241465468_241465470del	NCBI36
NG_008005.1:g.13634_13636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.847-159_847-157del MANE Select	ENSP00000302620.3:n.847-159_847-157del
ENST00000307503.3:c.847-159_847-157del	ENSP00000302620.3:n.847-159_847-157del
ENST00000470255.1:n.466_468del
NM_000030.2:c.847-159_847-157del	NP_000021.1:n.847-159_847-157del
NM_000030.3:c.847-159_847-157del MANE Select	NP_000021.1:n.847-159_847-157del