Canonical Allele Identifier: CA351318056

Gene: AGXT

Linked Data

• MyVariant Identifiers: chr2:g.241814554C>T (hg19) ; chr2:g.240875137C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875137C>T , CM000664.2:g.240875137C>T	GRCh38
NC_000002.11:g.241814554C>T , CM000664.1:g.241814554C>T	GRCh37
NC_000002.10:g.241463227C>T	NCBI36
NG_008005.1:g.11393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.709C>T MANE Select	ENSP00000302620.3:p.Pro237Ser
ENST00000307503.3:c.709C>T	ENSP00000302620.3:p.Pro237Ser
ENST00000476698.1:n.361C>T
NM_000030.2:c.709C>T	NP_000021.1:p.Pro237Ser
NM_000030.3:c.709C>T MANE Select	NP_000021.1:p.Pro237Ser