Canonical Allele Identifier: CA1543915
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs182164052
ExAC: 2:20205562 C / G
gnomAD v2: 2-20205562-C-G
gnomAD v4: 2-20005801-C-G
MyVariant Identifiers: chr2:g.20205562C>G (hg19) chr2:g.20005801C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005801C>G , CM000664.2:g.20005801C>G GRCh38
NC_000002.11:g.20205562C>G , CM000664.1:g.20205562C>G GRCh37
NC_000002.10:g.20069043C>G NCBI36
NG_008087.1:g.11894G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.733G>C MANE Select ENSP00000383894.3:p.Val245Leu
ENST00000407540.7:c.733G>C ENSP00000383894.3:p.Val245Leu
ENST00000421259.2:c.733G>C ENSP00000398753.2:p.Val245Leu
NM_002381.4:c.733G>C NP_002372.1:p.Val245Leu
NM_002381.5:c.733G>C MANE Select NP_002372.1:p.Val245Leu
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