Canonical Allele Identifier: CA345481908

Gene: ADSS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244418852T>C , CM000663.2:g.244418852T>C	GRCh38
NC_000001.10:g.244582154T>C , CM000663.1:g.244582154T>C	GRCh37
NC_000001.9:g.242648777T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001126.5:c.853A>G MANE Select	NP_001117.2:p.Met285Val
ENST00000366535.4:c.853A>G MANE Select	ENSP00000355493.3:p.Met285Val
NM_001126.3:c.853A>G	NP_001117.2:p.Met285Val
NM_001126.4:c.853A>G	NP_001117.2:p.Met285Val
NM_001365073.1:c.853A>G	NP_001352002.1:p.Met285Val
NM_001365073.2:c.853A>G	NP_001352002.1:p.Met285Val
ENST00000366535.3:c.853A>G	ENSP00000355493.3:p.Met285Val
ENST00000468215.1:n.422A>G
XM_011544108.1:c.673A>G	XP_011542410.1:p.Met225Val
XM_011544108.3:c.673A>G	XP_011542410.1:p.Met225Val
XM_011544109.1:c.673A>G	XP_011542411.1:p.Met225Val