Canonical Allele Identifier: CA9768946

Gene: MACROD2 FLRT3

Linked Data

• ClinVar Variation Id: 235238
• ClinVar RCV Id: RCV000224340
• dbSNP Id: rs8120693
• ExAC: 20:14307024 C / T
• gnomAD v2: 20-14307024-C-T
• gnomAD v3: 20-14326378-C-T
• gnomAD v4: 20-14326378-C-T
• MyVariant Identifiers: chr20:g.14307024C>T (hg19) ; chr20:g.14326378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.14326378C>T , CM000682.2:g.14326378C>T	GRCh38
NC_000020.10:g.14307024C>T , CM000682.1:g.14307024C>T	GRCh37
NC_000020.9:g.14255024C>T	NCBI36
NG_033913.1:g.16290G>A
NG_054905.1:g.335879C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684519.1:c.272-167101C>T (MACROD2) MANE Select	ENSP00000507484.1:n.272-167101C>T
ENST00000341420.5:c.1129G>A (FLRT3) MANE Select	ENSP00000339912.4:p.Ala377Thr
ENST00000642719.1:c.272-167101C>T (MACROD2)	ENSP00000496601.1:n.272-167101C>T
ENST00000217246.8:c.272-167101C>T (MACROD2)	ENSP00000217246.4:n.272-167101C>T
ENST00000341420.4:c.1129G>A (FLRT3)	ENSP00000339912.4:p.Ala377Thr
ENST00000378053.3:c.1129G>A (FLRT3)	ENSP00000367292.3:p.Ala377Thr
ENST00000477147.5:n.541-167101C>T (MACROD2)
ENST00000490428.5:n.263-167101C>T (MACROD2)
ENST00000494602.5:n.299-167101C>T (MACROD2)
NM_013281.3:c.1129G>A (FLRT3)	NP_037413.1:p.Ala377Thr
NM_080676.5:c.272-167101C>T (MACROD2)	NP_542407.2:n.272-167101C>T
NM_198391.2:c.1129G>A (FLRT3)	NP_938205.1:p.Ala377Thr
XM_005260682.3:c.1129G>A (FLRT3)	XP_005260739.1:p.Ala377Thr
XM_011529204.1:c.1129G>A (FLRT3)	XP_011527506.1:p.Ala377Thr
XM_011529205.1:c.1129G>A (FLRT3)	XP_011527507.1:p.Ala377Thr
NM_001351661.1:c.272-167101C>T (MACROD2)	NP_001338590.1:n.272-167101C>T
NM_001351663.1:c.272-167101C>T (MACROD2)	NP_001338592.1:n.272-167101C>T
XM_005260682.4:c.1129G>A (FLRT3)	XP_005260739.1:p.Ala377Thr
XM_011529204.2:c.1129G>A (FLRT3)	XP_011527506.1:p.Ala377Thr
XM_011529205.2:c.1129G>A (FLRT3)	XP_011527507.1:p.Ala377Thr
NM_198391.3:c.1129G>A (FLRT3) MANE Select	NP_938205.1:p.Ala377Thr
NM_001351661.2:c.272-167101C>T (MACROD2) MANE Select	NP_001338590.1:n.272-167101C>T
NM_001351663.2:c.272-167101C>T (MACROD2)	NP_001338592.1:n.272-167101C>T
NM_080676.6:c.272-167101C>T (MACROD2)	NP_542407.2:n.272-167101C>T
NM_013281.4:c.1129G>A (FLRT3)	NP_037413.1:p.Ala377Thr