Canonical Allele Identifier: CA764601973

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1206560187
• gnomAD v3: 2-214944853-T-G
• gnomAD v4: 2-214944853-T-G
• MyVariant Identifiers: chr2:g.215809577T>G (hg19) ; chr2:g.214944853T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214944853T>G , CM000664.2:g.214944853T>G	GRCh38
NC_000002.11:g.215809577T>G , CM000664.1:g.215809577T>G	GRCh37
NC_000002.10:g.215517822T>G	NCBI36
NG_007074.1:g.198575A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7343+148A>C (ABCA12) MANE Select	ENSP00000272895.7:n.7343+148A>C
ENST00000272895.11:c.7343+148A>C (ABCA12)	ENSP00000272895.7:n.7343+148A>C
ENST00000389661.4:c.6389+148A>C (ABCA12)	ENSP00000374312.4:n.6389+148A>C
NM_015657.3:c.6389+148A>C (ABCA12)	NP_056472.2:n.6389+148A>C
NM_173076.2:c.7343+148A>C (ABCA12)	NP_775099.2:n.7343+148A>C
NR_103740.1:n.7643+148A>C (ABCA12)
NR_110292.1:n.322-2972T>G (SNHG31)
XM_011510951.1:c.7352+148A>C (ABCA12)	XP_011509253.1:n.7352+148A>C
XM_011510951.2:c.7352+148A>C (ABCA12)	XP_011509253.1:n.7352+148A>C
NM_173076.3:c.7343+148A>C (ABCA12) MANE Select	NP_775099.2:n.7343+148A>C
NR_103740.2:n.7841+148A>C (ABCA12)
NM_015657.4:c.6389+148A>C (ABCA12)	NP_056472.2:n.6389+148A>C