Canonical Allele Identifier: CA531422421
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1185303098
gnomAD v2: 2-27307958-G-T
gnomAD v3: 2-27085090-G-T
gnomAD v4: 2-27085090-G-T
MyVariant Identifiers: chr2:g.27307958G>T (hg19) chr2:g.27085090G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085090G>T , CM000664.2:g.27085090G>T GRCh38
NC_000002.11:g.27307958G>T , CM000664.1:g.27307958G>T GRCh37
NC_000002.10:g.27161462G>T NCBI36
NG_012199.1:g.3348G>T
NG_046849.1:g.11524G>T
NG_012199.2:g.3348G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2576-70G>T MANE Select ENSP00000369677.4:n.2576-70G>T
ENST00000380320.8:c.2576-70G>T ENSP00000369677.4:n.2576-70G>T
ENST00000433140.1:c.568-70G>T
NM_007046.3:c.2576-70G>T NP_008977.1:n.2576-70G>T
XM_006711928.2:c.2575+82G>T XP_006711991.1:n.2575+82G>T
NM_007046.4:c.2576-70G>T MANE Select NP_008977.1:n.2576-70G>T
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