Canonical Allele Identifier: CA363617800

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164946-G-A
• MyVariant Identifiers: chr6:g.33132723G>A (hg19) ; chr6:g.33164946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164946G>A , CM000668.2:g.33164946G>A	GRCh38
NC_000006.11:g.33132723G>A , CM000668.1:g.33132723G>A	GRCh37
NC_000006.10:g.33240701G>A	NCBI36
NG_011589.1:g.32523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.575C>T
ENST00000341947.7:c.4769C>T MANE Select	ENSP00000339915.2:p.Pro1590Leu
ENST00000341947.6:c.4769C>T	ENSP00000339915.2:p.Pro1590Leu
ENST00000361917.5:c.4448C>T	ENSP00000355123.1:p.Pro1483Leu
ENST00000374708.8:c.4511C>T	ENSP00000363840.4:p.Pro1504Leu
ENST00000477772.1:n.559C>T
NM_080679.2:c.4448C>T	NP_542410.2:p.Pro1483Leu
NM_080680.2:c.4769C>T	NP_542411.2:p.Pro1590Leu
NM_080681.2:c.4511C>T	NP_542412.2:p.Pro1504Leu
XM_011514298.1:c.3923C>T	XP_011512600.1:p.Pro1308Leu
XM_011514299.1:c.4055C>T	XP_011512601.1:p.Pro1352Leu
XM_011514300.1:c.3875C>T	XP_011512602.1:p.Pro1292Leu
XM_011514301.1:c.3812C>T	XP_011512603.1:p.Pro1271Leu
XM_011514302.1:c.3656C>T	XP_011512604.1:p.Pro1219Leu
XM_011514299.2:c.4055C>T	XP_011512601.1:p.Pro1352Leu
XM_011514300.2:c.3875C>T	XP_011512602.1:p.Pro1292Leu
XM_011514302.2:c.3656C>T	XP_011512604.1:p.Pro1219Leu
XM_017010250.1:c.4769C>T	XP_016865739.1:p.Pro1590Leu
XM_017010251.2:c.3587C>T	XP_016865740.1:p.Pro1196Leu
NM_080680.3:c.4769C>T MANE Select	NP_542411.2:p.Pro1590Leu
NM_080681.3:c.4511C>T	NP_542412.2:p.Pro1504Leu
NM_080679.3:c.4448C>T	NP_542410.2:p.Pro1483Leu