Canonical Allele Identifier: CA14654680
Gene: DNM2 HGNC NCBI

Linked Data

dbSNP Id: rs892086
gnomAD v2: 19-10837677-G-A
gnomAD v3: 19-10727001-G-A
gnomAD v4: 19-10727001-G-A
MyVariant Identifiers: chr19:g.10837677G>A (hg19) chr19:g.10727001G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10727001G>A , CM000681.2:g.10727001G>A GRCh38
NC_000019.9:g.10837677G>A , CM000681.1:g.10837677G>A GRCh37
NC_000019.8:g.10698677G>A NCBI36
NG_008792.1:g.13923G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682285.1:n.349+8598G>A
ENST00000682524.1:n.349+8598G>A
ENST00000683738.1:n.349+8598G>A
ENST00000355667.11:c.161+8598G>A ENSP00000347890.6:n.161+8598G>A
ENST00000389253.9:c.161+8598G>A MANE Select ENSP00000373905.4:n.161+8598G>A
ENST00000355667.10:c.161+8598G>A ENSP00000347890.6:n.161+8598G>A
ENST00000359692.10:c.161+8598G>A ENSP00000352721.6:n.161+8598G>A
ENST00000389253.8:c.161+8598G>A ENSP00000373905.3:n.161+8598G>A
ENST00000408974.8:c.161+8598G>A ENSP00000386192.3:n.161+8598G>A
ENST00000585892.5:c.161+8598G>A ENSP00000468734.1:n.161+8598G>A
ENST00000586939.5:c.-314+8355G>A ENSP00000467430.1:n.-314+8355G>A
NM_001005360.2:c.161+8598G>A NP_001005360.1:n.161+8598G>A
NM_001005361.2:c.161+8598G>A NP_001005361.1:n.161+8598G>A
NM_001005362.2:c.161+8598G>A NP_001005362.1:n.161+8598G>A
NM_001190716.1:c.161+8598G>A NP_001177645.1:n.161+8598G>A
NM_004945.3:c.161+8598G>A NP_004936.2:n.161+8598G>A
NM_001005361.3:c.161+8598G>A MANE Select NP_001005361.1:n.161+8598G>A
NM_001190716.2:c.161+8598G>A NP_001177645.1:n.161+8598G>A
NM_001005360.3:c.161+8598G>A NP_001005360.1:n.161+8598G>A
NM_001005362.3:c.161+8598G>A NP_001005362.1:n.161+8598G>A
NM_004945.4:c.161+8598G>A NP_004936.2:n.161+8598G>A
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