Canonical Allele Identifier: CA449878049

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33171560-G-A
• MyVariant Identifiers: chr6:g.33139337G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171560G>A , CM000668.2:g.33171560G>A	GRCh38
NC_000006.11:g.33139337G>A , CM000668.1:g.33139337G>A	GRCh37
NC_000006.10:g.33247315G>A	NCBI36
NG_011589.1:g.25909C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341947.7:c.3165C>T MANE Select	ENSP00000339915.2:p.Pro1055=
ENST00000341947.6:c.3165C>T	ENSP00000339915.2:p.Pro1055=
ENST00000361917.5:c.2844C>T	ENSP00000355123.1:p.Pro948=
ENST00000374708.8:c.2907C>T	ENSP00000363840.4:p.Pro969=
ENST00000477772.1:n.272+5449C>T
NM_080679.2:c.2844C>T	NP_542410.2:p.Pro948=
NM_080680.2:c.3165C>T	NP_542411.2:p.Pro1055=
NM_080681.2:c.2907C>T	NP_542412.2:p.Pro969=
XM_011514298.1:c.2319C>T	XP_011512600.1:p.Pro773=
XM_011514299.1:c.2451C>T	XP_011512601.1:p.Pro817=
XM_011514300.1:c.2271C>T	XP_011512602.1:p.Pro757=
XM_011514301.1:c.2208C>T	XP_011512603.1:p.Pro736=
XM_011514302.1:c.2052C>T	XP_011512604.1:p.Pro684=
XM_011514299.2:c.2451C>T	XP_011512601.1:p.Pro817=
XM_011514300.2:c.2271C>T	XP_011512602.1:p.Pro757=
XM_011514302.2:c.2052C>T	XP_011512604.1:p.Pro684=
XM_017010250.1:c.3165C>T	XP_016865739.1:p.Pro1055=
XM_017010251.2:c.1983C>T	XP_016865740.1:p.Pro661=
NM_080680.3:c.3165C>T MANE Select	NP_542411.2:p.Pro1055=
NM_080681.3:c.2907C>T	NP_542412.2:p.Pro969=
NM_080679.3:c.2844C>T	NP_542410.2:p.Pro948=