Canonical Allele Identifier: CA346156097
Gene: EMILIN1 HGNC NCBI

Linked Data

gnomAD v4: 2-27085199-C-T
MyVariant Identifiers: chr2:g.27308067C>T (hg19) chr2:g.27085199C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085199C>T , CM000664.2:g.27085199C>T GRCh38
NC_000002.11:g.27308067C>T , CM000664.1:g.27308067C>T GRCh37
NC_000002.10:g.27161571C>T NCBI36
NG_012199.1:g.3457C>T
NG_046849.1:g.11633C>T
NG_012199.2:g.3457C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2615C>T MANE Select ENSP00000369677.4:p.Ala872Val
ENST00000380320.8:c.2615C>T ENSP00000369677.4:p.Ala872Val
ENST00000433140.1:c.607C>T
NM_007046.3:c.2615C>T NP_008977.1:p.Ala872Val
XM_006711928.2:c.2575+191C>T XP_006711991.1:n.2575+191C>T
NM_007046.4:c.2615C>T MANE Select NP_008977.1:p.Ala872Val
Search 100 bp 5'
Search 100 bp 3'