Canonical Allele Identifier: CA11061184
Gene: EMILIN1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.27079297T>C
GRCh37 chr2:g.27302165T>C
gnomAD v2:
2:27302165 T / C
gnomAD v3:
2:27079297 T / C
gnomAD v4:
chr2-27079297-T-C
Joint Max Group AF 0.77389942 (EAS)
Genomes Max Group AF 0.75112602 (EAS)
Exomes Max Group AF 0.77506129 (EAS)
dbSNP:
2289360
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27079297T>C , CM000664.2:g.27079297T>C GRCh38
NC_000002.11:g.27302165T>C , CM000664.1:g.27302165T>C GRCh37
NC_000002.10:g.27155669T>C NCBI36
NG_046849.1:g.5731T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.170+62T>C MANE Select ENSP00000369677.4:n.170+62T>C
ENST00000380320.8:c.170+62T>C ENSP00000369677.4:n.170+62T>C
NM_007046.3:c.170+62T>C NP_008977.1:n.170+62T>C
XM_006711928.2:c.170+62T>C XP_006711991.1:n.170+62T>C
NM_007046.4:c.170+62T>C MANE Select NP_008977.1:n.170+62T>C
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