Canonical Allele Identifier: CA15971217

Gene: MACROD2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.14284769G>T , CM000682.2:g.14284769G>T	GRCh38
NC_000020.10:g.14265415G>T , CM000682.1:g.14265415G>T	GRCh37
NC_000020.9:g.14213415G>T	NCBI36
NG_054905.1:g.294270G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684519.1:c.271+199041G>T MANE Select	ENSP00000507484.1:n.271+199041G>T
ENST00000642719.1:c.271+199041G>T	ENSP00000496601.1:n.271+199041G>T
ENST00000217246.8:c.271+199041G>T	ENSP00000217246.4:n.271+199041G>T
ENST00000477147.5:n.540+199041G>T
ENST00000490428.5:n.262+199041G>T
ENST00000494602.5:n.298+199041G>T
NM_080676.5:c.271+199041G>T	NP_542407.2:n.271+199041G>T
NM_001351661.1:c.271+199041G>T	NP_001338590.1:n.271+199041G>T
NM_001351663.1:c.271+199041G>T	NP_001338592.1:n.271+199041G>T
NM_001351661.2:c.271+199041G>T MANE Select	NP_001338590.1:n.271+199041G>T
NM_001351663.2:c.271+199041G>T	NP_001338592.1:n.271+199041G>T
NM_080676.6:c.271+199041G>T	NP_542407.2:n.271+199041G>T