Canonical Allele Identifier: CA3993089

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 256061
• ClinVar RCV Id: RCV000251196 ; RCV002057354
• dbSNP Id: rs535718824
• ExAC: 6:129618816 T / A
• gnomAD v2: 6-129618816-T-A
• gnomAD v3: 6-129297671-T-A
• gnomAD v4: 6-129297671-T-A
• MyVariant Identifiers: chr6:g.129618816T>A (hg19) ; chr6:g.129297671T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297671T>A , CM000668.2:g.129297671T>A	GRCh38
NC_000006.11:g.129618816T>A , CM000668.1:g.129618816T>A	GRCh37
NC_000006.10:g.129660509T>A	NCBI36
NG_008678.1:g.419531T>A , LRG_409:g.419531T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.2857-14T>A	ENSP00000481744.2:n.2857-14T>A
ENST00000618192.5:c.3121-14T>A	ENSP00000480802.2:n.3121-14T>A
ENST00000421865.3:c.2857-14T>A MANE Select	ENSP00000400365.2:n.2857-14T>A
ENST00000645154.1:c.372-14T>A
ENST00000421865.2:c.2857-14T>A	ENSP00000400365.2:n.2857-14T>A
ENST00000617695.4:c.2857-14T>A	ENSP00000481744.1:n.2857-14T>A
ENST00000618192.4:c.2857-14T>A	ENSP00000480802.1:n.2857-14T>A
NM_000426.3:c.2857-14T>A , LRG_409t1:c.2857-14T>A	NP_000417.2:n.2857-14T>A
NM_001079823.1:c.2857-14T>A	NP_001073291.1:n.2857-14T>A
XM_005266981.2:c.3121-14T>A	XP_005267038.1:n.3121-14T>A
XM_005266982.2:c.3121-14T>A	XP_005267039.1:n.3121-14T>A
XM_011535820.1:c.3121-14T>A	XP_011534122.1:n.3121-14T>A
XM_005266981.3:c.3121-14T>A	XP_005267038.1:n.3121-14T>A
XM_005266982.3:c.3121-14T>A	XP_005267039.1:n.3121-14T>A
XM_011535820.2:c.3121-14T>A	XP_011534122.1:n.3121-14T>A
XM_017010851.2:c.3127-14T>A	XP_016866340.1:n.3127-14T>A
XM_017010852.1:c.1252-14T>A	XP_016866341.1:n.1252-14T>A
XM_017010853.1:c.3121-14T>A	XP_016866342.1:n.3121-14T>A
NM_000426.4:c.2857-14T>A MANE Select	NP_000417.3:n.2857-14T>A
NM_001079823.2:c.2857-14T>A	NP_001073291.2:n.2857-14T>A