Canonical Allele Identifier: CA7720389

Gene: ACAN

Linked Data

• ClinVar Variation Id: 2616267
• ClinVar RCV Id: RCV003367721
• dbSNP Id: rs747876368
• ExAC: 15:89402180 G / C
• gnomAD v2: 15-89402180-G-C
• gnomAD v3: 15-88858949-G-C
• gnomAD v4: 15-88858949-G-C
• MyVariant Identifiers: chr15:g.89402180G>C (hg19) ; chr15:g.88858949G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88858949G>C , CM000677.2:g.88858949G>C	GRCh38
NC_000015.9:g.89402180G>C , CM000677.1:g.89402180G>C	GRCh37
NC_000015.8:g.87203184G>C	NCBI36
NG_012794.1:g.60507G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439576.7:c.6364G>C	ENSP00000387356.2:p.Glu2122Gln
ENST00000560601.4:c.6364G>C MANE Select	ENSP00000453581.2:p.Glu2122Gln
ENST00000561243.7:c.6364G>C	ENSP00000453342.3:p.Glu2122Gln
ENST00000352105.11:c.6364G>C	ENSP00000341615.7:p.Glu2122Gln
ENST00000439576.6:c.6364G>C	ENSP00000387356.2:p.Glu2122Gln
ENST00000559004.5:c.6364G>C	ENSP00000453499.1:p.Glu2122Gln
ENST00000561243.5:c.6364G>C	ENSP00000453342.1:p.Glu2122Gln
ENST00000617301.4:c.6307G>C	ENSP00000484456.1:p.Glu2103Gln
NM_001135.3:c.6364G>C	NP_001126.3:p.Glu2122Gln
NM_013227.3:c.6364G>C	NP_037359.3:p.Glu2122Gln
XM_006720419.1:c.6364G>C	XP_006720482.1:p.Glu2122Gln
XM_011521313.1:c.6364G>C	XP_011519615.1:p.Glu2122Gln
XM_011521314.1:c.6364G>C	XP_011519616.1:p.Glu2122Gln
NM_001369268.1:c.6364G>C MANE Select	NP_001356197.1:p.Glu2122Gln
NM_001135.4:c.6364G>C	NP_001126.3:p.Glu2122Gln
NM_013227.4:c.6364G>C	NP_037359.3:p.Glu2122Gln