Canonical Allele Identifier: CA350458334
Gene: ABCA12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215928844C>A (hg19) chr2:g.215064121C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064121C>A , CM000664.2:g.215064121C>A GRCh38
NC_000002.11:g.215928844C>A , CM000664.1:g.215928844C>A GRCh37
NC_000002.10:g.215637089C>A NCBI36
NG_007074.1:g.79308G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.262G>T MANE Select ENSP00000272895.7:p.Gly88Cys
ENST00000272895.11:c.262G>T ENSP00000272895.7:p.Gly88Cys
NM_173076.2:c.262G>T NP_775099.2:p.Gly88Cys
NR_103740.1:n.482G>T
XM_011510951.1:c.262G>T XP_011509253.1:p.Gly88Cys
XM_011510952.1:c.262G>T XP_011509254.1:p.Gly88Cys
XM_011510951.2:c.262G>T XP_011509253.1:p.Gly88Cys
NM_173076.3:c.262G>T MANE Select NP_775099.2:p.Gly88Cys
NR_103740.2:n.680G>T
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