Canonical Allele Identifier: CA399158120
Community Standard Title: NM_139285.4(GAS2L2):c.1780G>C (p.Gly594Arg)
Gene: GAS2L2 HGNC NCBI
TAF15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35745717C>G , CM000679.2:g.35745717C>G GRCh38
NC_000017.10:g.34072736C>G , CM000679.1:g.34072736C>G GRCh37
NC_000017.9:g.31096849C>G NCBI36
NG_029638.1:g.12162G>C

Transcript Alleles

HGVS Amino-acid Change
NM_139285.4:c.1780G>C (GAS2L2) MANE Select NP_644814.1:p.Gly594Arg
ENST00000604641.6:c.1780G>C (GAS2L2) MANE Select ENSP00000474529.2:p.Gly594Arg
NM_139285.3:c.1780G>C (GAS2L2) NP_644814.1:p.Gly594Arg
ENST00000603067.5:n.6+31921C>G (TAF15)
ENST00000604063.5:c.1732G>C (GAS2L2) ENSP00000474009.1:p.Gly578Arg
ENST00000604641.5:c.1780G>C (GAS2L2) ENSP00000474529.1:p.Gly594Arg
ENST00000618498.1:c.*1091G>C (GAS2L2) ENSP00000480457.1:n.*1091G>C
XM_006721796.2:c.1672G>C (GAS2L2) XP_006721859.1:p.Gly558Arg