Canonical Allele Identifier: CA365634797

Gene: LAMA2

Linked Data

• COSMIC: COSM3858205
• MyVariant Identifiers: chr6:g.129826384G>T (hg19) ; chr6:g.129505239G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505239G>T , CM000668.2:g.129505239G>T	GRCh38
NC_000006.11:g.129826384G>T , CM000668.1:g.129826384G>T	GRCh37
NC_000006.10:g.129868077G>T	NCBI36
NG_008678.1:g.627099G>T , LRG_409:g.627099G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.652G>T	ENSP00000510626.1:p.Val218Leu
ENST00000498257.6:c.652G>T	ENSP00000510533.1:p.Val218Leu
ENST00000617695.5:c.8575G>T	ENSP00000481744.2:p.Val2859Leu
ENST00000618192.5:c.8851G>T	ENSP00000480802.2:p.Val2951Leu
ENST00000688198.1:n.1565G>T
ENST00000688799.1:c.652G>T	ENSP00000508458.1:p.Val218Leu
ENST00000690858.1:n.1581G>T
ENST00000693461.1:n.924G>T
ENST00000421865.3:c.8587G>T MANE Select	ENSP00000400365.2:p.Val2863Leu
ENST00000421865.2:c.8587G>T	ENSP00000400365.2:p.Val2863Leu
ENST00000617695.4:c.8575G>T	ENSP00000481744.1:p.Val2859Leu
ENST00000618192.4:c.8584G>T	ENSP00000480802.1:p.Val2862Leu
NM_000426.3:c.8587G>T , LRG_409t1:c.8587G>T	NP_000417.2:p.Val2863Leu
NM_001079823.1:c.8575G>T	NP_001073291.1:p.Val2859Leu
XM_005266981.2:c.8851G>T	XP_005267038.1:p.Val2951Leu
XM_005266982.2:c.8839G>T	XP_005267039.1:p.Val2947Leu
XM_011535820.1:c.8845G>T	XP_011534122.1:p.Val2949Leu
XR_942984.1:n.1461-2448C>A
XR_942985.1:n.1325-2448C>A
XM_005266981.3:c.8851G>T	XP_005267038.1:p.Val2951Leu
XM_005266982.3:c.8839G>T	XP_005267039.1:p.Val2947Leu
XM_011535820.2:c.8845G>T	XP_011534122.1:p.Val2949Leu
XM_017010851.2:c.8857G>T	XP_016866340.1:p.Val2953Leu
XM_017010852.1:c.6982G>T	XP_016866341.1:p.Val2328Leu
XR_001743859.1:n.3901-2448C>A
XR_001743860.1:n.1180-2448C>A
XR_001743861.1:n.1347-2448C>A
XR_001743863.1:n.883-2448C>A
XR_002956395.1:n.9132-2448C>A
XR_002956396.1:n.3127-2448C>A
NM_000426.4:c.8587G>T MANE Select	NP_000417.3:p.Val2863Leu
NM_001079823.2:c.8575G>T	NP_001073291.2:p.Val2859Leu