Canonical Allele Identifier: CA365634819

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129826394C>T (hg19) ; chr6:g.129505249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505249C>T , CM000668.2:g.129505249C>T	GRCh38
NC_000006.11:g.129826394C>T , CM000668.1:g.129826394C>T	GRCh37
NC_000006.10:g.129868087C>T	NCBI36
NG_008678.1:g.627109C>T , LRG_409:g.627109C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.662C>T	ENSP00000510626.1:p.Ala221Val
ENST00000498257.6:c.662C>T	ENSP00000510533.1:p.Ala221Val
ENST00000617695.5:c.8585C>T	ENSP00000481744.2:p.Ala2862Val
ENST00000618192.5:c.8861C>T	ENSP00000480802.2:p.Ala2954Val
ENST00000688198.1:n.1575C>T
ENST00000688799.1:c.662C>T	ENSP00000508458.1:p.Ala221Val
ENST00000690858.1:n.1591C>T
ENST00000693461.1:n.934C>T
ENST00000421865.3:c.8597C>T MANE Select	ENSP00000400365.2:p.Ala2866Val
ENST00000421865.2:c.8597C>T	ENSP00000400365.2:p.Ala2866Val
ENST00000617695.4:c.8585C>T	ENSP00000481744.1:p.Ala2862Val
ENST00000618192.4:c.8594C>T	ENSP00000480802.1:p.Ala2865Val
NM_000426.3:c.8597C>T , LRG_409t1:c.8597C>T	NP_000417.2:p.Ala2866Val
NM_001079823.1:c.8585C>T	NP_001073291.1:p.Ala2862Val
XM_005266981.2:c.8861C>T	XP_005267038.1:p.Ala2954Val
XM_005266982.2:c.8849C>T	XP_005267039.1:p.Ala2950Val
XM_011535820.1:c.8855C>T	XP_011534122.1:p.Ala2952Val
XR_942984.1:n.1461-2458G>A
XR_942985.1:n.1325-2458G>A
XM_005266981.3:c.8861C>T	XP_005267038.1:p.Ala2954Val
XM_005266982.3:c.8849C>T	XP_005267039.1:p.Ala2950Val
XM_011535820.2:c.8855C>T	XP_011534122.1:p.Ala2952Val
XM_017010851.2:c.8867C>T	XP_016866340.1:p.Ala2956Val
XM_017010852.1:c.6992C>T	XP_016866341.1:p.Ala2331Val
XR_001743859.1:n.3901-2458G>A
XR_001743860.1:n.1180-2458G>A
XR_001743861.1:n.1347-2458G>A
XR_001743863.1:n.883-2458G>A
XR_002956395.1:n.9132-2458G>A
XR_002956396.1:n.3127-2458G>A
NM_000426.4:c.8597C>T MANE Select	NP_000417.3:p.Ala2866Val
NM_001079823.2:c.8585C>T	NP_001073291.2:p.Ala2862Val