Canonical Allele Identifier: CA249967

Gene: ISCA2

Linked Data

• ClinVar Variation Id: 183353
• ClinVar RCV Id: RCV000162184 ; RCV000170534 ; RCV000255374 ; RCV000310400
• dbSNP Id: rs730882246
• gnomAD v4: 14-74494329-G-A
• COSMIC: COSM4052379
• MyVariant Identifiers: chr14:g.74961032G>A (hg19) ; chr14:g.74494329G>A (hg38)
• PubMed: PMID:25539947 ; PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74494329G>A , CM000676.2:g.74494329G>A	GRCh38
NC_000014.8:g.74961032G>A , CM000676.1:g.74961032G>A	GRCh37
NC_000014.7:g.74030785G>A	NCBI36
NG_007117.1:g.4053C>T
NG_033074.1:g.5610G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000556816.6:c.229G>A MANE Select	ENSP00000452007.1:p.Gly77Ser
ENST00000298818.12:c.229G>A	ENSP00000298818.8:p.Gly77Ser
ENST00000554924.1:c.174+177G>A	ENSP00000450523.1:n.174+177G>A
ENST00000555139.1:n.232G>A
ENST00000556816.5:c.229G>A	ENSP00000452007.1:p.Gly77Ser
NM_001272007.1:c.174+177G>A	NP_001258936.1:n.174+177G>A
NM_194279.3:c.229G>A	NP_919255.2:p.Gly77Ser
NM_194279.4:c.229G>A MANE Select	NP_919255.2:p.Gly77Ser
NM_001272007.2:c.174+177G>A	NP_001258936.1:n.174+177G>A