Canonical Allele Identifier: CA376655935
Gene: GDF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47325219T>C , CM000672.2:g.47325219T>C GRCh38
NC_000010.10:g.48414143A>G , CM000672.1:g.48414143A>G GRCh37
NC_000010.9:g.48034149A>G NCBI36
NG_033916.1:g.7730T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581492.3:c.725T>C MANE Select ENSP00000463051.1:p.Ile242Thr
ENST00000581492.2:c.725T>C ENSP00000463051.1:p.Ile242Thr
NM_016204.2:c.725T>C NP_057288.1:p.Ile242Thr
XM_006717761.2:c.725T>C XP_006717824.1:p.Ile242Thr
NM_016204.3:c.725T>C NP_057288.1:p.Ile242Thr
NM_016204.4:c.725T>C MANE Select NP_057288.1:p.Ile242Thr