Canonical Allele Identifier: CA351318221

Gene: AGXT

Linked Data

• MyVariant Identifiers: chr2:g.241814597G>T (hg19) ; chr2:g.240875180G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875180G>T , CM000664.2:g.240875180G>T	GRCh38
NC_000002.11:g.241814597G>T , CM000664.1:g.241814597G>T	GRCh37
NC_000002.10:g.241463270G>T	NCBI36
NG_008005.1:g.11436G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.752G>T MANE Select	ENSP00000302620.3:p.Trp251Leu
ENST00000307503.3:c.752G>T	ENSP00000302620.3:p.Trp251Leu
ENST00000476698.1:n.404G>T
NM_000030.2:c.752G>T	NP_000021.1:p.Trp251Leu
NM_000030.3:c.752G>T MANE Select	NP_000021.1:p.Trp251Leu