Canonical Allele Identifier: CA363617793

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132721T>G (hg19) ; chr6:g.33164944T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164944T>G , CM000668.2:g.33164944T>G	GRCh38
NC_000006.11:g.33132721T>G , CM000668.1:g.33132721T>G	GRCh37
NC_000006.10:g.33240699T>G	NCBI36
NG_011589.1:g.32525A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.577A>C
ENST00000341947.7:c.4771A>C MANE Select	ENSP00000339915.2:p.Asn1591His
ENST00000341947.6:c.4771A>C	ENSP00000339915.2:p.Asn1591His
ENST00000361917.5:c.4450A>C	ENSP00000355123.1:p.Asn1484His
ENST00000374708.8:c.4513A>C	ENSP00000363840.4:p.Asn1505His
ENST00000477772.1:n.561A>C
NM_080679.2:c.4450A>C	NP_542410.2:p.Asn1484His
NM_080680.2:c.4771A>C	NP_542411.2:p.Asn1591His
NM_080681.2:c.4513A>C	NP_542412.2:p.Asn1505His
XM_011514298.1:c.3925A>C	XP_011512600.1:p.Asn1309His
XM_011514299.1:c.4057A>C	XP_011512601.1:p.Asn1353His
XM_011514300.1:c.3877A>C	XP_011512602.1:p.Asn1293His
XM_011514301.1:c.3814A>C	XP_011512603.1:p.Asn1272His
XM_011514302.1:c.3658A>C	XP_011512604.1:p.Asn1220His
XM_011514299.2:c.4057A>C	XP_011512601.1:p.Asn1353His
XM_011514300.2:c.3877A>C	XP_011512602.1:p.Asn1293His
XM_011514302.2:c.3658A>C	XP_011512604.1:p.Asn1220His
XM_017010250.1:c.4771A>C	XP_016865739.1:p.Asn1591His
XM_017010251.2:c.3589A>C	XP_016865740.1:p.Asn1197His
NM_080680.3:c.4771A>C MANE Select	NP_542411.2:p.Asn1591His
NM_080681.3:c.4513A>C	NP_542412.2:p.Asn1505His
NM_080679.3:c.4450A>C	NP_542410.2:p.Asn1484His