Canonical Allele Identifier: CA539752177

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1249095071
• gnomAD v2: 2-215809668-T-C
• gnomAD v3: 2-214944944-T-C
• gnomAD v4: 2-214944944-T-C
• MyVariant Identifiers: chr2:g.215809668T>C (hg19) ; chr2:g.214944944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214944944T>C , CM000664.2:g.214944944T>C	GRCh38
NC_000002.11:g.215809668T>C , CM000664.1:g.215809668T>C	GRCh37
NC_000002.10:g.215517913T>C	NCBI36
NG_007074.1:g.198484A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7343+57A>G (ABCA12) MANE Select	ENSP00000272895.7:n.7343+57A>G
ENST00000272895.11:c.7343+57A>G (ABCA12)	ENSP00000272895.7:n.7343+57A>G
ENST00000389661.4:c.6389+57A>G (ABCA12)	ENSP00000374312.4:n.6389+57A>G
NM_015657.3:c.6389+57A>G (ABCA12)	NP_056472.2:n.6389+57A>G
NM_173076.2:c.7343+57A>G (ABCA12)	NP_775099.2:n.7343+57A>G
NR_103740.1:n.7643+57A>G (ABCA12)
NR_110292.1:n.322-2881T>C (SNHG31)
XM_011510951.1:c.7352+57A>G (ABCA12)	XP_011509253.1:n.7352+57A>G
XM_011510951.2:c.7352+57A>G (ABCA12)	XP_011509253.1:n.7352+57A>G
NM_173076.3:c.7343+57A>G (ABCA12) MANE Select	NP_775099.2:n.7343+57A>G
NR_103740.2:n.7841+57A>G (ABCA12)
NM_015657.4:c.6389+57A>G (ABCA12)	NP_056472.2:n.6389+57A>G