Canonical Allele Identifier: CA566427871

Gene: COL11A2

Linked Data

• dbSNP Id: rs1191863936
• gnomAD v2: 6-33138847-C-T
• MyVariant Identifiers: chr6:g.33138847C>T (hg19) ; chr6:g.33171070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171070C>T , CM000668.2:g.33171070C>T	GRCh38
NC_000006.11:g.33138847C>T , CM000668.1:g.33138847C>T	GRCh37
NC_000006.10:g.33246825C>T	NCBI36
NG_011589.1:g.26399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3366+44G>A MANE Select	ENSP00000339915.2:n.3366+44G>A
ENST00000341947.6:c.3366+44G>A	ENSP00000339915.2:n.3366+44G>A
ENST00000361917.5:c.3045+44G>A	ENSP00000355123.1:n.3045+44G>A
ENST00000374708.8:c.3108+44G>A	ENSP00000363840.4:n.3108+44G>A
ENST00000477772.1:n.273-5254G>A
NM_080679.2:c.3045+44G>A	NP_542410.2:n.3045+44G>A
NM_080680.2:c.3366+44G>A	NP_542411.2:n.3366+44G>A
NM_080681.2:c.3108+44G>A	NP_542412.2:n.3108+44G>A
XM_011514298.1:c.2520+44G>A	XP_011512600.1:n.2520+44G>A
XM_011514299.1:c.2652+44G>A	XP_011512601.1:n.2652+44G>A
XM_011514300.1:c.2472+44G>A	XP_011512602.1:n.2472+44G>A
XM_011514301.1:c.2409+44G>A	XP_011512603.1:n.2409+44G>A
XM_011514302.1:c.2253+44G>A	XP_011512604.1:n.2253+44G>A
XM_011514299.2:c.2652+44G>A	XP_011512601.1:n.2652+44G>A
XM_011514300.2:c.2472+44G>A	XP_011512602.1:n.2472+44G>A
XM_011514302.2:c.2253+44G>A	XP_011512604.1:n.2253+44G>A
XM_017010250.1:c.3366+44G>A	XP_016865739.1:n.3366+44G>A
XM_017010251.2:c.2184+44G>A	XP_016865740.1:n.2184+44G>A
NM_080680.3:c.3366+44G>A MANE Select	NP_542411.2:n.3366+44G>A
NM_080681.3:c.3108+44G>A	NP_542412.2:n.3108+44G>A
NM_080679.3:c.3045+44G>A	NP_542410.2:n.3045+44G>A