Canonical Allele Identifier: CA2092595
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs754551664
ExAC: 2:215928762 T / C
gnomAD v2: 2-215928762-T-C
gnomAD v3: 2-215064039-T-C
gnomAD v4: 2-215064039-T-C
MyVariant Identifiers: chr2:g.215928762T>C (hg19) chr2:g.215064039T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064039T>C , CM000664.2:g.215064039T>C GRCh38
NC_000002.11:g.215928762T>C , CM000664.1:g.215928762T>C GRCh37
NC_000002.10:g.215637007T>C NCBI36
NG_007074.1:g.79390A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.317+27A>G MANE Select ENSP00000272895.7:n.317+27A>G
ENST00000272895.11:c.317+27A>G ENSP00000272895.7:n.317+27A>G
NM_173076.2:c.317+27A>G NP_775099.2:n.317+27A>G
NR_103740.1:n.537+27A>G
XM_011510951.1:c.317+27A>G XP_011509253.1:n.317+27A>G
XM_011510952.1:c.317+27A>G XP_011509254.1:n.317+27A>G
XM_011510951.2:c.317+27A>G XP_011509253.1:n.317+27A>G
NM_173076.3:c.317+27A>G MANE Select NP_775099.2:n.317+27A>G
NR_103740.2:n.735+27A>G
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