Canonical Allele Identifier: CA3749951

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2885983
• ClinVar RCV Id: RCV003719702
• dbSNP Id: rs777459975
• ExAC: 6:33132182 G / A
• gnomAD v2: 6-33132182-G-A
• gnomAD v4: 6-33164405-G-A
• MyVariant Identifiers: chr6:g.33132182G>A (hg19) ; chr6:g.33164405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164405G>A , CM000668.2:g.33164405G>A	GRCh38
NC_000006.11:g.33132182G>A , CM000668.1:g.33132182G>A	GRCh37
NC_000006.10:g.33240160G>A	NCBI36
NG_011589.1:g.33064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.738C>T
ENST00000341947.7:c.4932C>T MANE Select	ENSP00000339915.2:p.Ser1644=
ENST00000341947.6:c.4932C>T	ENSP00000339915.2:p.Ser1644=
ENST00000361917.5:c.4611C>T	ENSP00000355123.1:p.Ser1537=
ENST00000374708.8:c.4674C>T	ENSP00000363840.4:p.Ser1558=
ENST00000477772.1:n.722C>T
NM_080679.2:c.4611C>T	NP_542410.2:p.Ser1537=
NM_080680.2:c.4932C>T	NP_542411.2:p.Ser1644=
NM_080681.2:c.4674C>T	NP_542412.2:p.Ser1558=
XM_011514298.1:c.4086C>T	XP_011512600.1:p.Ser1362=
XM_011514299.1:c.4218C>T	XP_011512601.1:p.Ser1406=
XM_011514300.1:c.4038C>T	XP_011512602.1:p.Ser1346=
XM_011514301.1:c.3975C>T	XP_011512603.1:p.Ser1325=
XM_011514302.1:c.3819C>T	XP_011512604.1:p.Ser1273=
XM_011514299.2:c.4218C>T	XP_011512601.1:p.Ser1406=
XM_011514300.2:c.4038C>T	XP_011512602.1:p.Ser1346=
XM_011514302.2:c.3819C>T	XP_011512604.1:p.Ser1273=
XM_017010250.1:c.4932C>T	XP_016865739.1:p.Ser1644=
XM_017010251.2:c.3750C>T	XP_016865740.1:p.Ser1250=
NM_080680.3:c.4932C>T MANE Select	NP_542411.2:p.Ser1644=
NM_080681.3:c.4674C>T	NP_542412.2:p.Ser1558=
NM_080679.3:c.4611C>T	NP_542410.2:p.Ser1537=