Canonical Allele Identifier: CA449867055

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1562235
• ClinVar RCV Id: RCV002212480
• dbSNP Id: rs1333213346
• gnomAD v2: 6-33132206-C-T
• gnomAD v4: 6-33164429-C-T
• MyVariant Identifiers: chr6:g.33132206C>T (hg19) ; chr6:g.33164429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164429C>T , CM000668.2:g.33164429C>T	GRCh38
NC_000006.11:g.33132206C>T , CM000668.1:g.33132206C>T	GRCh37
NC_000006.10:g.33240184C>T	NCBI36
NG_011589.1:g.33040G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.714G>A
ENST00000341947.7:c.4908G>A MANE Select	ENSP00000339915.2:p.Gln1636=
ENST00000341947.6:c.4908G>A	ENSP00000339915.2:p.Gln1636=
ENST00000361917.5:c.4587G>A	ENSP00000355123.1:p.Gln1529=
ENST00000374708.8:c.4650G>A	ENSP00000363840.4:p.Gln1550=
ENST00000477772.1:n.698G>A
NM_080679.2:c.4587G>A	NP_542410.2:p.Gln1529=
NM_080680.2:c.4908G>A	NP_542411.2:p.Gln1636=
NM_080681.2:c.4650G>A	NP_542412.2:p.Gln1550=
XM_011514298.1:c.4062G>A	XP_011512600.1:p.Gln1354=
XM_011514299.1:c.4194G>A	XP_011512601.1:p.Gln1398=
XM_011514300.1:c.4014G>A	XP_011512602.1:p.Gln1338=
XM_011514301.1:c.3951G>A	XP_011512603.1:p.Gln1317=
XM_011514302.1:c.3795G>A	XP_011512604.1:p.Gln1265=
XM_011514299.2:c.4194G>A	XP_011512601.1:p.Gln1398=
XM_011514300.2:c.4014G>A	XP_011512602.1:p.Gln1338=
XM_011514302.2:c.3795G>A	XP_011512604.1:p.Gln1265=
XM_017010250.1:c.4908G>A	XP_016865739.1:p.Gln1636=
XM_017010251.2:c.3726G>A	XP_016865740.1:p.Gln1242=
NM_080680.3:c.4908G>A MANE Select	NP_542411.2:p.Gln1636=
NM_080681.3:c.4650G>A	NP_542412.2:p.Gln1550=
NM_080679.3:c.4587G>A	NP_542410.2:p.Gln1529=