Canonical Allele Identifier: CA10612313

Gene: MATN3 WDR35-DT

Linked Data

• ClinVar Variation Id: 333409
• ClinVar RCV Id: RCV000302662
• dbSNP Id: rs766531074
• gnomAD v2: 2-20192212-C-T
• gnomAD v3: 2-19992451-C-T
• gnomAD v4: 2-19992451-C-T
• MyVariant Identifiers: chr2:g.20192212C>T (hg19) ; chr2:g.19992451C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19992451C>T , CM000664.2:g.19992451C>T	GRCh38
NC_000002.11:g.20192212C>T , CM000664.1:g.20192212C>T	GRCh37
NC_000002.10:g.20055693C>T	NCBI36
NG_008087.1:g.25244G>A
NG_021212.1:g.2673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.*660G>A (MATN3) MANE Select	ENSP00000383894.3:n.*660G>A
ENST00000407540.7:c.*660G>A (MATN3)	ENSP00000383894.3:n.*660G>A
NM_002381.4:c.*660G>A (MATN3)	NP_002372.1:n.*660G>A
NR_110235.1:n.291+1957C>T (WDR35-DT)
NM_002381.5:c.*660G>A (MATN3) MANE Select	NP_002372.1:n.*660G>A