Canonical Allele Identifier: CA375651735
Community Standard Title: NM_203468.3(ENTPD2):c.1177G>T (p.Ala393Ser)
Gene: ENTPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137049048C>A , CM000671.2:g.137049048C>A GRCh38
NC_000009.11:g.139943500C>A , CM000671.1:g.139943500C>A GRCh37
NC_000009.10:g.139063321C>A NCBI36
NG_029427.1:g.10006G>T

Transcript Alleles

HGVS Amino-acid Change
NM_203468.3:c.1177G>T MANE Select NP_982293.1:p.Ala393Ser
ENST00000355097.7:c.1177G>T MANE Select ENSP00000347213.2:p.Ala393Ser
NM_001246.3:c.1150-42G>T NP_001237.1:n.1150-42G>T
NM_001246.4:c.1150-42G>T NP_001237.1:n.1150-42G>T
NM_203468.2:c.1177G>T NP_982293.1:p.Ala393Ser
ENST00000312665.7:c.1150-42G>T ENSP00000312494.5:n.1150-42G>T
ENST00000355097.6:c.1177G>T ENSP00000347213.2:p.Ala393Ser
ENST00000460614.1:n.566G>T
XM_011519211.1:c.922G>T XP_011517513.1:p.Ala308Ser
XM_011519212.1:c.868G>T XP_011517514.1:p.Ala290Ser
XM_011519212.3:c.868G>T XP_011517514.1:p.Ala290Ser