Canonical Allele Identifier: CA741425737

Gene: MACROD2

Linked Data

• dbSNP Id: rs2208454
• gnomAD v3: 20-14284769-G-C
• gnomAD v4: 20-14284769-G-C
• MyVariant Identifiers: chr20:g.14265415G>C (hg19) ; chr20:g.14284769G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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