Allele Registry

Canonical Allele Identifier: CA204779

Gene: COL11A2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.33176015C>A

GRCh37 chr6:g.33143792C>A

Linked Data - NCBI & NCI

ClinVar Allele:

205251

ClinVar RCV:

RCV000190748

ClinVar Variation:

208730

dbSNP:

797044915

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33176015C>A , CM000668.2:g.33176015C>A	GRCh38
NC_000006.11:g.33143792C>A , CM000668.1:g.33143792C>A	GRCh37
NC_000006.10:g.33251770C>A	NCBI36
NG_011589.1:g.21454G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.841+1G>T
ENST00000341947.7:c.2268+1G>T MANE Select	ENSP00000339915.2:n.2268+1G>T
ENST00000341947.6:c.2268+1G>T	ENSP00000339915.2:n.2268+1G>T
ENST00000361917.5:c.1947+1G>T	ENSP00000355123.1:n.1947+1G>T
ENST00000374708.8:c.2010+1G>T	ENSP00000363840.4:n.2010+1G>T
ENST00000477772.1:n.272+994G>T
NM_080679.2:c.1947+1G>T	NP_542410.2:n.1947+1G>T
NM_080680.2:c.2268+1G>T	NP_542411.2:n.2268+1G>T
NM_080681.2:c.2010+1G>T	NP_542412.2:n.2010+1G>T
XM_011514298.1:c.1422+1G>T	XP_011512600.1:n.1422+1G>T
XM_011514299.1:c.1554+1G>T	XP_011512601.1:n.1554+1G>T
XM_011514300.1:c.1374+1G>T	XP_011512602.1:n.1374+1G>T
XM_011514301.1:c.1311+1G>T	XP_011512603.1:n.1311+1G>T
XM_011514302.1:c.1155+1G>T	XP_011512604.1:n.1155+1G>T
XM_011514299.2:c.1554+1G>T	XP_011512601.1:n.1554+1G>T
XM_011514300.2:c.1374+1G>T	XP_011512602.1:n.1374+1G>T
XM_011514302.2:c.1155+1G>T	XP_011512604.1:n.1155+1G>T
XM_017010250.1:c.2268+1G>T	XP_016865739.1:n.2268+1G>T
XM_017010251.2:c.1086+1G>T	XP_016865740.1:n.1086+1G>T
NM_080680.3:c.2268+1G>T MANE Select	NP_542411.2:n.2268+1G>T
NM_080681.3:c.2010+1G>T	NP_542412.2:n.2010+1G>T
NM_080679.3:c.1947+1G>T	NP_542410.2:n.1947+1G>T

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