Canonical Allele Identifier: CA347304452
Gene: ACTG2 HGNC NCBI

Linked Data

gnomAD v4: 2-73914842-C-A
MyVariant Identifiers: chr2:g.74141969C>A (hg19) chr2:g.73914842C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73914842C>A , CM000664.2:g.73914842C>A GRCh38
NC_000002.11:g.74141969C>A , CM000664.1:g.74141969C>A GRCh37
NC_000002.10:g.73995477C>A NCBI36
NG_034140.1:g.26877C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000345517.8:c.776C>A MANE Select ENSP00000295137.3:p.Pro259His
ENST00000345517.7:c.776C>A ENSP00000295137.3:p.Pro259His
ENST00000409624.1:c.776C>A ENSP00000386857.1:p.Pro259His
ENST00000409731.7:c.647C>A ENSP00000386929.3:p.Pro216His
ENST00000438902.6:c.*841C>A ENSP00000410706.2:n.*841C>A
NM_001199893.1:c.647C>A NP_001186822.1:p.Pro216His
NM_001615.3:c.776C>A NP_001606.1:p.Pro259His
NM_001199893.2:c.647C>A NP_001186822.1:p.Pro216His
NM_001615.4:c.776C>A MANE Select NP_001606.1:p.Pro259His
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