Canonical Allele Identifier: CA10612384
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

ClinVar Variation Id: 334214
ClinVar RCV Id: RCV000354101
dbSNP Id: rs77729645
gnomAD v2: 2-215796873-A-G
gnomAD v3: 2-214932149-A-G
gnomAD v4: 2-214932149-A-G
MyVariant Identifiers: chr2:g.215796873A>G (hg19) chr2:g.214932149A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932149A>G , CM000664.2:g.214932149A>G GRCh38
NC_000002.11:g.215796873A>G , CM000664.1:g.215796873A>G GRCh37
NC_000002.10:g.215505118A>G NCBI36
NG_007074.1:g.211279T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.*485T>C (ABCA12) MANE Select ENSP00000272895.7:n.*485T>C
ENST00000272895.11:c.*485T>C (ABCA12) ENSP00000272895.7:n.*485T>C
NM_015657.3:c.*485T>C (ABCA12) NP_056472.2:n.*485T>C
NM_173076.2:c.*485T>C (ABCA12) NP_775099.2:n.*485T>C
NR_103740.1:n.8573T>C (ABCA12)
NR_110292.1:n.322-15676A>G (SNHG31)
XM_011510951.1:c.*485T>C (ABCA12) XP_011509253.1:n.*485T>C
XM_011510951.2:c.*485T>C (ABCA12) XP_011509253.1:n.*485T>C
NM_173076.3:c.*485T>C (ABCA12) MANE Select NP_775099.2:n.*485T>C
NR_103740.2:n.8771T>C (ABCA12)
NM_015657.4:c.*485T>C (ABCA12) NP_056472.2:n.*485T>C
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