Canonical Allele Identifier: CA431319081

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1698098707
• MyVariant Identifiers: chr2:g.215797463A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932739A>G , CM000664.2:g.214932739A>G	GRCh38
NC_000002.11:g.215797463A>G , CM000664.1:g.215797463A>G	GRCh37
NC_000002.10:g.215505708A>G	NCBI36
NG_007074.1:g.210689T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7683T>C (ABCA12) MANE Select	ENSP00000272895.7:p.Val2561=
ENST00000272895.11:c.7683T>C (ABCA12)	ENSP00000272895.7:p.Val2561=
ENST00000389661.4:c.6729T>C (ABCA12)	ENSP00000374312.4:p.Val2243=
NM_015657.3:c.6729T>C (ABCA12)	NP_056472.2:p.Val2243=
NM_173076.2:c.7683T>C (ABCA12)	NP_775099.2:p.Val2561=
NR_103740.1:n.7983T>C (ABCA12)
NR_110292.1:n.322-15086A>G (SNHG31)
XM_011510951.1:c.7692T>C (ABCA12)	XP_011509253.1:p.Val2564=
XM_011510951.2:c.7692T>C (ABCA12)	XP_011509253.1:p.Val2564=
NM_173076.3:c.7683T>C (ABCA12) MANE Select	NP_775099.2:p.Val2561=
NR_103740.2:n.8181T>C (ABCA12)
NM_015657.4:c.6729T>C (ABCA12)	NP_056472.2:p.Val2243=