Canonical Allele Identifier: CA645372376

Gene: ABCA12 SNHG31

Linked Data

• ClinVar Variation Id: 430629
• ClinVar RCV Id: RCV000494735
• dbSNP Id: rs1131692156
• MyVariant Identifiers: chr2:g.215823744T>C (hg19) ; chr2:g.214959020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214959020T>C , CM000664.2:g.214959020T>C	GRCh38
NC_000002.11:g.215823744T>C , CM000664.1:g.215823744T>C	GRCh37
NC_000002.10:g.215531989T>C	NCBI36
NG_007074.1:g.184408A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.5939+4A>G (ABCA12) MANE Select	ENSP00000272895.7:n.5939+4A>G
ENST00000272895.11:c.5939+4A>G (ABCA12)	ENSP00000272895.7:n.5939+4A>G
ENST00000389661.4:c.4985+4A>G (ABCA12)	ENSP00000374312.4:n.4985+4A>G
NM_015657.3:c.4985+4A>G (ABCA12)	NP_056472.2:n.4985+4A>G
NM_173076.2:c.5939+4A>G (ABCA12)	NP_775099.2:n.5939+4A>G
NR_103740.1:n.6239+4A>G (ABCA12)
NR_110292.1:n.445-2790T>C (SNHG31)
XM_011510951.1:c.5948+4A>G (ABCA12)	XP_011509253.1:n.5948+4A>G
XM_011510951.2:c.5948+4A>G (ABCA12)	XP_011509253.1:n.5948+4A>G
NM_173076.3:c.5939+4A>G (ABCA12) MANE Select	NP_775099.2:n.5939+4A>G
NR_103740.2:n.6437+4A>G (ABCA12)
NM_015657.4:c.4985+4A>G (ABCA12)	NP_056472.2:n.4985+4A>G